ID   GM26035
AC   CVCL_D2ZC
DR   Coriell; GM26035
DR   Wikidata; Q127380902
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:27302; IBA57; Simple; p.Arg197Trp (c.589C>T); ClinVar=VCV000521722; Zygosity=Heterozygous (Coriell=GM26035).
CC   Sequence variation: Mutation; HGNC; HGNC:27302; IBA57; Simple; p.Pro236Ala (c.706C>G); ClinVar=VCV000521723; Zygosity=Heterozygous (Coriell=GM26035).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202608; Multiple mitochondrial dysfunctions syndrome type 3
DI   ORDO; Orphanet_363424; Multiple mitochondrial dysfunctions syndrome type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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