Cellosaurus cell line OPCA-iPSC1 (CVCL

Cross-references
Cell line name	OPCA-iPSC1
Synonyms	OPCA-iPS1
Accession	CVCL_L661
Resource Identification Initiative	To cite this cell line use: OPCA-iPSC1 (RRID:CVCL_L661)
Comments	From: Guangzhou Medical University; Guangzhou; China. Population: Chinese. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[45] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Unspecified (PubMed=22301348).
Disease	Spinocerebellar ataxia type 7 (NCIt: C126562) Spinocerebellar ataxia type 7 (ORDO: Orphanet_94147)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_L662 ! OPCA-iPSC2 CVCL_L663 ! OPCA-iPSC3
Sex of cell	Female
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=22301348; DOI=10.1620/tjem.226.151 Luo Y.-M., Fan Y., Zhou B.-R., Xu Z.-Q., Chen Y.-Y., Sun X.-F. Generation of induced pluripotent stem cells from skin fibroblasts of a patient with olivopontocerebellar atrophy. Tohoku J. Exp. Med. 226:151-159(2012)
Encyclopedic resources	Wikidata; Q54936461
Entry history
Entry creation	06-May-2013
Last entry update	19-Dec-2024
Version number	15