Cellosaurus cell line XACHi011-A (CVCL

Cross-references
Cell line name	XACHi011-A
Synonyms	P2
Accession	CVCL_ZB27
Resource Identification Initiative	To cite this cell line use: XACHi011-A (RRID:CVCL_ZB27)
Comments	From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1243; C1QBP; Simple; p.Leu275Phe (c.823C>T); ClinVar=VCV000441245; Zygosity=Heterozygous (PubMed=32707487).
Disease	Combined oxidative phosphorylation deficiency 33 (NCIt: C174440)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	PubMed=32707487; DOI=10.1016/j.scr.2020.101912 Yan-Min Zhang, Jie Wang, Ya-Fei Zhou, Huan Li, An-Mao Li, Xiao-Qiu Tan, Guo-Xia Wang, Ming Lei; Generation of two induced pluripotent stem cell lines (XACHi0010-A, XACHi0011-A) from a Chinese family with combined oxidative phosphorylation deficiency carrying homozygous and heterozygous C1QBP-L275F mutation. Stem Cell Res. 47:101912-101912(2020)
Cell line databases/resources	hPSCreg; XACHi011-A
Encyclopedic resources	Wikidata; Q98135126
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	6