Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Wray, Selina ^a   Self, Matthew ^b   Lewis, Patrick A ^a   Taanman, Jan Willem ^a   Ryan, Natalie S ^a   Mahoney, Colin J ^a   Liang, Yuying ^a   Devine, Michael J ^a   Sheerin, Una Marie ^a   Houlden, Henry ^a   Morris, Huw R ^c   Healy, Daniel ^a   Marti Masso, Jose Felix ^d   Preza, Elisavet ^a   Barker, Suzanne ^a   Sutherland, Margaret ^e   Corriveau, Roderick A ^e   D'Andrea, Michael ^b   Schapira, Anthony H V ^a   Uitti, Ryan J ^f   Guttman, Mark ^g   Opala, Grzegorz ^h   Jasinska Myga, Barbara ^h   Puschmann, Andreas ⁱ   Nilsson, Christer ⁱ   Espay, Alberto J ^j   Slawek, Jaroslaw ^k   Gutmann, Ludwig ^l   Boeve, Bradley F ^m   Boylan, Kevin ^f   Jon Stoessl, A ⁿ   Ross, Owen A ^f   Maragakis, Nicholas J ^o   Van Gerpen, Jay ^f   Gerstenhaber, Melissa ^o   Gwinn, Katrina ^t   Dawson, Ted M ^p   Isacson, Ole ^q   Marder, Karen S ^r,s   Clark, Lorraine N ^r   Przedborski, Serge E ^s   Finkbeiner, Steven ^u   Rothstein, Jeffrey D ^o   Wszolek, Zbigniew K ^f   Rossor, Martin N ^a   Hardy, John ^a   Gusella, James F ^v   MacDonald, Marcy E ^v   Wheeler, Vanessa C ^v   Ross, Christopher A ^o   Akimov, Sergey ^o   Arjomand, Jamshid ^w   Thompson, Leslie M ^x   King, Alvin ^x   Hermanowicz, Neal ^x   Winokur, Sara ^x   Svendsen, Clive N ^y   Mattis, Virginia ^y   Onorati, Marco ^z   Cattaneo, Elena ^z   Allen, Nicholas D ^aa   Kemp, Paul J ^aa   Kim, Kwang Soo ^ab   Przedborski, Serge ^s   Feng, Jian ^ac   Lee, Virginia M Y ^ad   Trojanowski, John Q ^ad   James Surmeier, D ^ae   Henderson, Christopher E ^af   Maniatis, Tom ^ag   Eggan, Kevin ^ag   Cudowicz, Merit E ^v   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

^c CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^d Hospital Donastia   (Spain)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^f MAYO CLINIC   (United States)

^g Department of Neurology   (Canada)

^h MEDICAL UNIVERSITY OF SILESIA   (Poland)

ⁱ LUND UNIVERSITY   (Sweden)

^j UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^k MEDICAL UNIVERSITY OF GDANSK   (Poland)

^l WEST VIRGINIA UNIVERSITY   (United States)

^m MAYO CLINIC   (United States)

ⁿ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^o JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p JOHNS HOPKINS HOSPITAL   (United States)

^q HARVARD MEDICAL SCHOOL   (United States)

^r Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^s Institute of Cell Engineering Department of Neurology and the Solomon H Snyder Department of Neuroscience John Hopkins University ^*  (United States)

^t BAYLOR COLLEGE OF MEDICINE   (United States)

^u UNIVERSITY OF CALIFORNIA   (United States)

^v MASSACHUSETTS GENERAL HOSPITAL   (United States)

^w CHDI MANAGEMENT CHDI FOUNDATION   (United States)

^x UNIVERSITY OF CALIFORNIA   (United States)

^y CEDARS SINAI MEDICAL CENTER   (United States)

^z UNIVERSITY OF MILAN   (Italy)

^aa CARDIFF UNIVERSITY   (United Kingdom)

^ab MCLEAN HOSPITAL   (United States)

^ac UNIVERSITY AT BUFFALO   (United States)

^ad UNIVERSITY OF PENNSYLVANIA   (United States)

^ae NORTHWESTERN UNIVERSITY   (United States)

^af Och Spine at New York Presbyterian Hospitals   (United States)

^ag HARVARD UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALVASCULIN; TAU PROTEIN;

ACCESS TO INFORMATION; ARTICLE; CELL DIFFERENTIATION; CELL LINE; CELL STRUCTURE; CELL VIABILITY; CONTROLLED STUDY; CRYOPRESERVATION; FIBROBLAST; GENE MUTATION; GLIA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MOLECULAR DYNAMICS; NERVE CELL; NEUROLOGIC DISEASE; PHENOTYPE; PLURIPOTENT STEM CELL; PROTEIN PHOSPHORYLATION;

EID: 84865409773     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043099     Document Type: Article

References (64)

1. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706.
2. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, et al. (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269: 973-977.
3. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, et al. (1995) Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376: 775-778.
4. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760.
5. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, et al. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605-608.
6. Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44: 595-600.
7. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361: 1651-1661.
8. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, et al. (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841.
9. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-1160.
10. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62.
11. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672.
12. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211.
13. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, et al. (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916-919.
14. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, et al. (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442: 920-924.
15. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, et al. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705.
16. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 72: 971-983.
17. Bottomley RH, Trainer AL, Griffin MJ, (1969) Enzymatic and chromosomal characterization of HeLa variants. J Cell Biol 41: 806-815.
18. Falkenburger BH, Schulz JB, (2006) Limitations of cellular models in Parkinson's disease research. J Neural Transm Suppl pp. 261-268.
19. Gibbs JR, Singleton A, (2006) Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet 2: 150.
20. Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, et al. (2007) Induced pluripotent stem cell lines derived from human somatic cells. Science 318: 1917-1920.
21. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, et al. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131: 861-872.
22. Park IH, Zhao R, West JA, Yabuuchi A, Huo H, et al. (2008) Reprogramming of human somatic cells to pluripotency with defined factors. Nature 451: 141-146.
23. Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, et al. (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. Nat Commun 2: 440.
24. Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, et al. (2008) Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321: 1218-1221.
25. Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, et al. (2011) Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 480: 543-546.
26. Qiang L, Fujita R, Yamashita T, Angulo S, Rhinn H, et al. (2011) Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons. Cell 146: 359-371.
27. Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, et al. (2012) Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson's Disease. Sci Transl Med 4: 141.
28. Shi Y, Kirwan P, Smith J, Maclean G, Orkin SH, et al. (2012) A human stem cell model of early Alzheimer's disease pathology in down syndrome. Sci Transl Med 4: 124ra29.
29. Israel MA, Yuan SH, Bardy C, Reyna SM, Mu Y, et al. (2012) Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature 482: 216-220.
30. Cherry AB, Daley GQ, (2012) Reprogramming Cellular Identity for Regenerative Medicine. Cell 148: 1110-1122.
31. Strutz F, Okada H, Lo CW, Danoff T, Carone RL, et al. (1995) Identification and characterization of a fibroblast marker: FSP1. J Cell Biol 130: 393-405.
32. Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, et al. (2008) Disease-specific induced pluripotent stem cells. Cell 134: 877-886.
33. Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, et al. (1995) Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Hum Mol Genet 4: 2373-2377.
34. Jorgensen P, Bus C, Pallisgaard N, Bryder M, Jorgensen AL, (1996) Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. Clin Genet 50: 281-286.
35. Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, et al. (2003) Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology 60: 235-239.
36. Godbolt AK, Beck JA, Collinge J, Garrard P, Warren JD, et al. (2004) A presenilin 1 R278I mutation presenting with language impairment. Neurology 63: 1702-1704.
37. Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, et al. (2011) Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by alpha-synuclein triplication (Iowa kindred). Mov Disord 26: 2134-2136.
38. Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, et al. (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 45: 502-505.
39. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44: 601-607.
40. Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, et al. (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7: 583-590.
41. Clark LN, Wang Y, Karlins E, Saito L, Mejia-Santana H, et al. (2006) Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 67: 1786-1791.
42. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, et al. (2010) Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol 67: 1116-1122.
43. Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, et al. (2006) Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol 63: 1250-1254.
44. Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, et al. (2007) Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 69: 1270-1277.
45. Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, et al. (2010) Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol 67: 731-738.
46. Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, et al. (2007) Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov Disord 22: 932-937.
47. Puschmann A, (2011) Heredity in Parkinson's disease. From rare mutations to common genetic risk factors. Lund University, Faculty of Medicine Doctoral Dissertation Series 2011: 95. 1-174.
48. Narozanska E, Jasinska-Myga B, Sitek EJ, Robowski P, Brockhuis B, et al. (2011) Frontotemporal dementia and parkinsonism linked to chromosome 17-the first Polish family. Eur J Neurol 18: 535-537.
49. Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, et al. (2009) Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology 73: 1058-1065.
50. Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, et al. (1992) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32: 312-320.
51. Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, et al. (2002) Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 59: 1791-1793.
52. Janssen JC, Warrington EK, Morris HR, Lantos P, Brown J, et al. (2002) Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 58: 1161-1168.
53. Kantarci K, Boeve BF, Wszolek ZK, Rademakers R, Whitwell JL, et al. (2010) MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. Neurology 75: 771-778.
54. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, et al. (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15: 2988-3001.
55. Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, et al. (2009) The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456.
56. Miller TD, Jackson AP, Barresi R, Smart CM, Eugenicos M, et al. (2009) Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. J Neurol Neurosurg Psychiatry 80: 583-584.
57. Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, et al. (2009) DCTN1 mutations in Perry syndrome. Nat Genet 41: 163-165.
58. Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, et al. (2009) Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord 15: 281-286.
59. Van Gerpen JA, Ledoux MS, Wszolek ZK, (2010) Adult-onset leg dystonia due to a missense mutation in THAP1. Mov Disord 25: 1306-1307.
60. Ledoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, et al. (2012) Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. Parkinsonism Relat Disord.
61. Hayflick L, Moorhead PS, (1961) The serial cultivation of human diploid cell strains. Exp Cell Res 25: 585-621.
62. Kitada M, Wakao S, Dezawa M, (2012) Muse cells and induced pluripotent stem cell: implication of the elite model. Cell Mol Life Sci.
63. Wakao S, Kitada M, Kuroda Y, Shigemoto T, Matsuse D, et al. (2011) Multilineage-differentiating stress-enduring (Muse) cells are a primary source of induced pluripotent stem cells in human fibroblasts. Proc Natl Acad Sci U S A 108: 9875-9880.
64. Feng B, Ng JH, Heng JC, Ng HH, (2009) Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells. Cell Stem Cell 4: 301-312.