Cellosaurus cell line CHOPi002-A (CVCL

Cross-references
Cell line name	CHOPi002-A
Synonyms	CHOPSCA2-1
Accession	CVCL_UL69
Resource Identification Initiative	To cite this cell line use: CHOPi002-A (RRID:CVCL_UL69)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Population: Caucasian; French/Italian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[33] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=30611021).
Disease	Spinocerebellar ataxia type 2 (NCIt: C148315) Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	58Y
Category	Induced pluripotent stem cell
Publications	PubMed=30611021; DOI=10.1016/j.scr.2018.101361 Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram G. Shakkottai, Paul Gadue, Deborah L. French; Generation of spinocerebellar ataxia type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene. Stem Cell Res. 34:101361-101361(2019)
Cell line databases/resources	hPSCreg; CHOPi002-A
Encyclopedic resources	Wikidata; Q93453045
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	8