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Cellosaurus XACHi011-A (CVCL_ZB27)

[Text version]
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; 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
Zhang Y.-M., Wang J., Zhou Y.-F., Li H., Li A.-M., Tan X.-Q., Wang G.-X., Lei M.
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)

Cross-references
Cell line databases/resources hPSCreg; XACHi011-A
Encyclopedic resources Wikidata; Q98135126
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5