ID   DHMCi007-A
AC   CVCL_B3NX
SY   Neph005B
DR   hPSCreg; DHMCi007-A
DR   Wikidata; Q110432771
RX   PubMed=34688127;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Asp2762Val (c.8285A>T); ClinVar=VCV000522472; Zygosity=Homozygous (PubMed=34688127).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84579; Autosomal recessive polycystic kidney disease
DI   ORDO; Orphanet_731; Autosomal recessive polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34688127; DOI=10.1016/j.scr.2021.102573;
RA   Tabatabaeifar, Mansoureh
RA   Fluhr, Theresa Leonie
RA   Syring, Hanna
RA   Gohring, Gudrun
RA   Schaefer, Franz
RA   Jung-Klawitter, Sabine
RT   "Generation of an induced pluripotent stem cell line (DHMCi007-A) from
RT   a patient with autosomal recessive polycystic kidney disease (ARPKD)
RT   carrying a homozygous missense mutation in the fibrocystin-encoding
RT   PKHD1 gene.";
RL   Stem Cell Res. 57:102573-102573(2021).
//