• Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[71]; Zygosity=Heterozygous; Note=The other allele has 23 repeats (Coriell=GM06153).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755
Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M.
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015)

PubMed=32361312; DOI=10.1016/j.scr.2020.101796
Ciolak A., Krzyzosiak W.J., Kozlowska E., Fiszer A.
Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Stem Cell Res. 45:101796-101796(2020)