ID   GM28014
AC   CVCL_A2YT
DR   Coriell; GM28014
DR   Wikidata; Q105507447
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Ile143Val (m.8953A>G); ClinVar=VCV000693034; Zygosity=Unspecified (Coriell=GM28014).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Thr266Asnfs*26 (c.796dupA); ClinVar=VCV000524066; Zygosity=Heterozygous (Coriell=GM28014).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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