ID   GM06153
AC   CVCL_7452
DR   CLO; CLO_0023571
DR   Coriell; GM06153
DR   Wikidata; Q54842201
RX   CelloPub=CLPUB00447;
RX   PubMed=25732146;
RX   PubMed=32361312;
CC   Population: Caucasian; Portuguese.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[71]; Zygosity=Heterozygous; Note=The other allele has 23 repeats (Coriell=GM06153).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=25732146; DOI=10.2174/1566524015666150303110300;
RA   Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N.,
RA   Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M.,
RA   Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A.,
RA   Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H.,
RA   Valle D.L., O'Donnell P., Sawa A., Kai M.;
RT   "Clinical utility of neuronal cells directly converted from
RT   fibroblasts of patients for neuropsychiatric disorders: studies of
RT   lysosomal storage diseases and channelopathy.";
RL   Curr. Mol. Med. 15:138-145(2015).
//
RX   PubMed=32361312; DOI=10.1016/j.scr.2020.101796;
RA   Ciolak A., Krzyzosiak W.J., Kozlowska E., Fiszer A.;
RT   "Generation of human iPS cell line IBCHi002-A from spinocerebellar
RT   ataxia type 3/Machado-Joseph disease patient's fibroblasts.";
RL   Stem Cell Res. 45:101796-101796(2020).
//