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Cellosaurus CHCMUi001-A (CVCL_C0C4)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CHCMUi001-A
Biological sample resources BioSamples; SAMEA14409935
Encyclopedic resources Wikidata; Q112929377
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4