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Cellosaurus GM13264 (CVCL_BW66)

[Text version]
Cell line name GM13264
Accession CVCL_BW66
Resource Identification Initiative To cite this cell line use: GM13264 (RRID:CVCL_BW66)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:5213; HSD17B4; Simple; p.Lys142Valfs*23 (c.423_424delGA) (c.422_423delAG); ClinVar=VCV000007659; Zygosity=Homozygous (Coriell=GM13264).
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 Female
Age at sampling 1M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13264
Cell line databases/resources CLO; CLO_0013134
Biological sample resources BioSample; SAMN00802226
Encyclopedic resources Wikidata; Q54846406
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12