Cellosaurus cell line CHCMUi001-A (CVCL

Cross-references
Cell line name	CHCMUi001-A
Accession	CVCL_C0C4
Resource Identification Initiative	To cite this cell line use: CHCMUi001-A (RRID:CVCL_C0C4)
Comments	From: Children's hospital of Chongqing Medical University; Chongqing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8977; PIK3CD; Simple; p.Glu1021Lys (c.3061G>A); ClinVar=VCV000088675; Zygosity=Heterozygous (PubMed=35660815).
Disease	Immunodeficiency 14A, autosomal dominant (NCIt: C187988) Activated PI3K-delta syndrome (ORDO: Orphanet_397596)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=35660815; DOI=10.1016/j.scr.2022.102822 Fang S.-Y., Zeng A.-L., Xu Q.-L., Zhou L.-N., Zhang Z.-Y., An Y.-F., Zhao X.-D. Generation of human induced pluripotent stem cell line from peripheral blood mononuclear cells from an activated phosphoinositide 3-kinase delta syndrome patient. Stem Cell Res. 62:102822-102822(2022)
Cell line databases/resources	hPSCreg; CHCMUi001-A
Biological sample resources	BioSamples; SAMEA14409935
Encyclopedic resources	Wikidata; Q112929377
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5