ID   GM17482
AC   CVCL_CV44
DR   CLO; CLO_0013015
DR   Coriell; GM17482
DR   Wikidata; Q54848916
CC   Sequence variation: Mutation; HGNC; HGNC:4803; HADHB; Simple; p.Arg61His (c.182G>A) (R28H); ClinVar=VCV000014845; Zygosity=Heterozygous (Coriell=GM17482).
CC   Sequence variation: Mutation; HGNC; HGNC:4803; HADHB; Simple; p.Arg247His (c.740G>A); ClinVar=VCV000014846; Zygosity=Heterozygous (Coriell=GM17482).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98991; Mitochondrial trifunctional protein deficiency
DI   ORDO; Orphanet_746; Mitochondrial trifunctional protein deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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