Cellosaurus cell line RCPCMi008-A (CVCL

Cross-references
Cell line name	RCPCMi008-A
Synonyms	IPS SCA17 sev cln4
Accession	CVCL_A8NA
Resource Identification Initiative	To cite this cell line use: RCPCMi008-A (RRID:CVCL_A8NA)
Comments	From: Federal Research and Clinical Center of Physical-Chemical Medicine; Moscow; Russia. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11588; TBP; Repeat_expansion; CAG[47]; Zygosity=Heterozygous (PubMed=34171784).
Disease	Spinocerebellar ataxia type 17 (NCIt: C179861) Spinocerebellar ataxia type 17 (ORDO: Orphanet_98759)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=34171784; DOI=10.1016/j.scr.2021.102431 Shuvalova L.D., Davidenko A.V., Eremeev A.V., Khomyakova E.A., Zerkalenkova E.A., Lebedeva O.S., Bogomazova A.N., Klyushnikov S.A., Illarioshkin S.N., Lagarkova M.A. Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17. Stem Cell Res. 54:102431-102431(2021)
Cell line databases/resources	hPSCreg; RCPCMi008-A
Biological sample resources	BioSamples; SAMEA8958139
Encyclopedic resources	Wikidata; Q108821219
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6