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Cellosaurus BGUi003-A (CVCL_A9XE)

[Text version]
Cell line name BGUi003-A
Synonyms BGU03iPOR; BGU003iPOR
Accession CVCL_A9XE
Resource Identification Initiative To cite this cell line use: BGUi003-A (RRID:CVCL_A9XE)
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; HGNC:9208; POR; Simple; p.Gly536Arg (c.1606G>A) (p.Gly539Arg, c.1615G>A) (1697G>A); ClinVar=VCV000016915; Zygosity=Homozygous (PubMed=32905996).
Disease Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (NCIt: C174439)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORDO: Orphanet_95699)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Web pages https://www.vatinelab.com/about-3
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; BGUi003-A
Biological sample resources BioSamples; SAMEA8072994
Encyclopedic resources Wikidata; Q102113617
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8