Cellosaurus cell line PLAFMCi003-A (CVCL

Cross-references
Cell line name	PLAFMCi003-A
Accession	CVCL_A4XI
Resource Identification Initiative	To cite this cell line use: PLAFMCi003-A (RRID:CVCL_A4XI)
Comments	From: Chinese PLA General Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Gene deletion; HGNC; HGNC:9008; PKD1; Zygosity=Heterozygous (PubMed=33485185). Gene deletion; HGNC; HGNC:12363; TSC2; Zygosity=Heterozygous (PubMed=33485185).
Disease	Polycystic kidney disease, infantile severe, with tuberous sclerosis (NCIt: C177539) Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ORDO: Orphanet_88924)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	38Y
Category	Induced pluripotent stem cell
Publications	PubMed=33485185; DOI=10.1016/j.scr.2021.102181 Jian Li, Shun-Lai Shang, Tao Wang, Bo Fu, Peng Wang, Guang-Yan Cai, Xiang-Mei Chen, Qing-Gang Li; Generation of iPSC from peripheral blood mononuclear cells obtained from a patient with TSC2-PKD1 contiguous gene deletion syndrome. Stem Cell Res. 51:102181-102181(2021)
Encyclopedic resources	Wikidata; Q107116664
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5