ID   GM13264
AC   CVCL_BW66
DR   CLO; CLO_0013134
DR   BioSample; SAMN00802226
DR   Coriell; GM13264
DR   Wikidata; Q54846406
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5213; HSD17B4; Simple; p.Lys142Valfs*23 (c.423_424delGA) (c.422_423delAG); ClinVar=VCV000007659; Zygosity=Homozygous (Coriell=GM13264).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C119676; D-bifunctional protein deficiency
DI   ORDO; Orphanet_300; Bifunctional enzyme deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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