ID   GM12212
AC   CVCL_5M50
DR   CLO; CLO_0019168
DR   Coriell; GM12212
DR   Wikidata; Q54845592
CC   Sequence variation: Mutation; HGNC; HGNC:8806; PDHA1; Simple; p.Arg263Gly (c.787C>G); ClinVar=VCV000010878; Zygosity=Hemizygous (Coriell=GM12212).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C103968; Pyruvate dehydrogenase deficiency
DI   ORDO; Orphanet_79243; Pyruvate dehydrogenase E1-alpha deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
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