ID   GM13263
AC   CVCL_BW65
DR   CLO; CLO_0013114
DR   BioSample; SAMN00802224
DR   Coriell; GM13263
DR   Wikidata; Q54846405
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:5213; HSD17B4; Simple; p.Lys142Valfs*23 (c.423_424delGA) (c.422_423delAG); ClinVar=VCV000007659; Zygosity=Homozygous (Coriell=GM13263).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C119676; D-bifunctional protein deficiency
DI   ORDO; Orphanet_300; Bifunctional enzyme deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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