ID   DHMCi006-A
AC   CVCL_B3NW
SY   Neph001D
DR   hPSCreg; DHMCi006-A
DR   Wikidata; Q110432770
RX   PubMed=34695767;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9016; PKHD1; Simple; p.Arg2111Gly (c.6331A>G); Zygosity=Heterozygous (PubMed=34695767).
CC   Sequence variation: Mutation; HGNC; 9016; PKHD1; Simple; p.Arg2573Cys (c.7717C>T); ClinVar=VCV000499806; Zygosity=Heterozygous (PubMed=34695767).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C84579; Autosomal recessive polycystic kidney disease
DI   ORDO; Orphanet_731; Autosomal recessive polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 23-06-22; Version: 3
//
RX   PubMed=34695767; DOI=10.1016/j.scr.2021.102579;
RA   Fluhr T.L., Tabatabaeifar M., Syring H., Gohring G., Schaefer F.,
RA   Jung-Klawitter S.;
RT   "Generation of an induced pluripotent stem cell line (DHMCi006-A) from
RT   a patient with autosomal recessive polycystic kidney disease (ARPKD)
RT   carrying a compound heterozygous missense mutation in the fibrocystin
RT   encoding PKHD1 gene.";
RL   Stem Cell Res. 57:102579-102579(2021).
//