ID   RCPCMi008-A
AC   CVCL_A8NA
SY   IPS SCA17 sev cln4
DR   BioSamples; SAMEA8958139
DR   hPSCreg; RCPCMi008-A
DR   Wikidata; Q108821219
RX   PubMed=34171784;
CC   From: Federal Research and Clinical Center of Physical-Chemical Medicine; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11588; TBP; Repeat_expansion; CAG[47]; Zygosity=Heterozygous (PubMed=34171784).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C179861; Spinocerebellar ataxia type 17
DI   ORDO; Orphanet_98759; Spinocerebellar ataxia type 17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34171784; DOI=10.1016/j.scr.2021.102431;
RA   Shuvalova L.D., Davidenko A.V., Eremeev A.V., Khomyakova E.A.,
RA   Zerkalenkova E.A., Lebedeva O.S., Bogomazova A.N., Klyushnikov S.A.,
RA   Illarioshkin S.N., Lagarkova M.A.;
RT   "Generation of induced pluripotent stem cell line RCPCMi008-A derived
RT   from patient with spinocerebellar ataxia 17.";
RL   Stem Cell Res. 54:102431-102431(2021).
//