ID   SDQLCHi068-A
AC   CVCL_D4ZR
DR   BioSamples; SAMEA115382132
DR   hPSCreg; SDQLCHi068-A
DR   Wikidata; Q127384273
RX   PubMed=38507881;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:8977; PIK3CD; Simple; p.Glu1021Lys (c.3061G>A); ClinVar=VCV000088675; Zygosity=Heterozygous (PubMed=38507881).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C220694; Activated phosphatidylinositol-3-OH kinase delta syndrome, type 1
DI   ORDO; Orphanet_397596; Activated PI3K-delta syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 27-11-25; Version: 4
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RX   PubMed=38507881; DOI=10.1016/j.scr.2024.103385;
RA   Xin, Hong-Mei
RA   Lv, Yu-Qiang
RA   Wei, Xu-Xia
RA   Song, Wei
RA   Li, Zi-Long
RA   Liu, Yi
RA   Gai, Zhong-Tao
RT   "Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived
RT   from a patient with autosomal dominant immunodeficiency-14A carrying
RT   a heterozygous mutation (c.3061G>A) in PIK3CD gene.";
RL   Stem Cell Res. 77:103385-103385(2024).
//