Cellosaurus cell line SDQLCHi068-A (CVCL

Cross-references
Cell line name	SDQLCHi068-A
Accession	CVCL_D4ZR
Resource Identification Initiative	To cite this cell line use: SDQLCHi068-A (RRID:CVCL_D4ZR)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; 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=38507881).
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	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=38507881; DOI=10.1016/j.scr.2024.103385 Xin H.-M., Lv Y.-Q., Wei X.-X., Song W., Li Z.-L., Liu Y., Gai Z.-T. Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene. Stem Cell Res. 77:103385-103385(2024)
Cell line databases/resources	hPSCreg; SDQLCHi068-A
Biological sample resources	BioSamples; SAMEA115382132
Encyclopedic resources	Wikidata; Q127384273
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3