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Cellosaurus BGUi001-A (CVCL_A9XC)

[Text version]
Cell line name BGUi001-A
Synonyms BGU01iPORCTR; BGU01iPORhet
Accession CVCL_A9XC
Resource Identification Initiative To cite this cell line use: BGUi001-A (RRID:CVCL_A9XC)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Bedouin.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9208; POR; Simple; p.Gly536Arg (c.1606G>A) (p.Gly539Arg, c.1615G>A) (1697G>A); ClinVar=VCV000016915; Zygosity=Heterozygous (PubMed=32905996).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=32905996; DOI=10.1016/j.scr.2020.101975
Zlotnik D., Rabinski T., Ofir R., Hershkovitz E., Vatine G.D.
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative.
Stem Cell Res. 48:101975-101975(2020)

Cross-references
Cell line databases/resources hPSCreg; BGUi001-A
Biological sample resources BioSamples; SAMEA7873753
Encyclopedic resources Wikidata; Q102113614
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6