Cellosaurus cell line DHMCi007-A (CVCL

Cross-references
Cell line name	DHMCi007-A
Synonyms	Neph005B
Accession	CVCL_B3NX
Resource Identification Initiative	To cite this cell line use: DHMCi007-A (RRID:CVCL_B3NX)
Comments	From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Asp2762Val (c.8285A>T); ClinVar=VCV000522472; Zygosity=Homozygous (PubMed=34688127).
Disease	Autosomal recessive polycystic kidney disease (NCIt: C84579) Autosomal recessive polycystic kidney disease (ORDO: Orphanet_731)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=34688127; DOI=10.1016/j.scr.2021.102573 Tabatabaeifar M., Fluhr T.L., Syring H., Gohring G., Schaefer F., Jung-Klawitter S. Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene. Stem Cell Res. 57:102573-102573(2021)
Cell line databases/resources	hPSCreg; DHMCi007-A
Encyclopedic resources	Wikidata; Q110432771
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5