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Cellosaurus GM13263 (CVCL_BW65)

[Text version]
Cell line name GM13263
Accession CVCL_BW65
Resource Identification Initiative To cite this cell line use: GM13263 (RRID:CVCL_BW65)
Comments Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5213; HSD17B4; Simple; p.Lys142Valfs*23 (c.423_424delGA) (c.422_423delAG); ClinVar=VCV000007659; Zygosity=Homozygous (Coriell=GM13263).
Disease D-bifunctional protein deficiency (NCIt: C119676)
Bifunctional enzyme deficiency (ORDO: Orphanet_300)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13263
Cell line databases/resources CLO; CLO_0013114
Biological sample resources BioSample; SAMN00802224
Encyclopedic resources Wikidata; Q54846405
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12