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Cellosaurus DHMCi007-A (CVCL_B3NX)

[Text version]
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; 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

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 creation16-Dec-2021
Last entry update29-Jun-2023
Version number4