Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi068-A (CVCL_D4ZR)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi068-A
Biological sample resources BioSamples; SAMEA115382132
Encyclopedic resources Wikidata; Q127384273
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2