ID   CHCMUi001-A
AC   CVCL_C0C4
DR   BioSamples; SAMEA14409935
DR   hPSCreg; CHCMUi001-A
DR   Wikidata; Q112929377
RX   PubMed=35660815;
CC   From: Children's hospital of Chongqing Medical University; Chongqing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8977; PIK3CD; Simple; p.Glu1021Lys (c.3061G>A); ClinVar=VCV000088675; Zygosity=Heterozygous (PubMed=35660815).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C187988; Immunodeficiency 14A, autosomal dominant
DI   ORDO; Orphanet_397596; Activated PI3K-delta syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35660815; DOI=10.1016/j.scr.2022.102822;
RA   Fang S.-Y., Zeng A.-L., Xu Q.-L., Zhou L.-N., Zhang Z.-Y., An Y.-F.,
RA   Zhao X.-D.;
RT   "Generation of human induced pluripotent stem cell line from
RT   peripheral blood mononuclear cells from an activated phosphoinositide
RT   3-kinase delta syndrome patient.";
RL   Stem Cell Res. 62:102822-102822(2022).
//