Cellosaurus cell line PLAFMCi005-A (CVCL

Cross-references
Cell line name	PLAFMCi005-A
Accession	CVCL_A0ZS
Resource Identification Initiative	To cite this cell line use: PLAFMCi005-A (RRID:CVCL_A0ZS)
Comments	From: Chinese PLA General Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11630; HNF1B; Simple; c.544+3_544+6delAAGT; ClinVar=VCV000635668; Zygosity=Heterozygous (PubMed=34359001).
Disease	Renal cysts and diabetes syndrome (NCIt: C123018) HNF1B-related autosomal dominant tubulointerstitial kidney disease (ORDO: Orphanet_93111)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=34359001; DOI=10.1016/j.scr.2021.102485 Cui S.-Y., Shang S.-L., Duan S.-W., Wu L.-L., Fu B., Bai X.-Y., Li Q.-G., Chen X.-M. Establishment of PLAFMCi005-A induced pluripotent stem cells derived from PBMC from a patient with renal cysts and diabetes syndrome. Stem Cell Res. 55:102485-102485(2021)
Encyclopedic resources	Wikidata; Q108821138
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5