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Cellosaurus DHMCi006-A (CVCL_B3NW)

[Text version]

Cell line name DHMCi006-A
Synonyms Neph001D
Accession CVCL_B3NW
Resource Identification Initiative To cite this cell line use: DHMCi006-A (RRID:CVCL_B3NW)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 9016; PKHD1; Simple; p.Arg2111Gly (c.6331A>G); Zygosity=Heterozygous (PubMed=34695767).
  • Mutation; HGNC; 9016; PKHD1; Simple; p.Arg2573Cys (c.7717C>T); ClinVar=VCV000499806; Zygosity=Heterozygous (PubMed=34695767).
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 13Y
Category Induced pluripotent stem cell
Publications

PubMed=34695767; DOI=10.1016/j.scr.2021.102579
Fluhr T.L., Tabatabaeifar M., Syring H., Gohring G., Schaefer F., Jung-Klawitter S.
Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene.
Stem Cell Res. 57:102579-102579(2021)

Cross-references
Cell line databases/resources hPSCreg; DHMCi006-A
Encyclopedic resources Wikidata; Q110432770
Entry history
Entry creation16-Dec-2021
Last entry update23-Jun-2022
Version number3