ID   GM28862
AC   CVCL_C7P9
SY   GM28862*B
DR   Coriell; GM28862
DR   Wikidata; Q117704451
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Leu105Ter (c.312_321del10insAT) (p.Pro104_Leu105insTer); ClinVar=VCV000215237; Zygosity=Heterozygous (Coriell=GM28862).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Arg192Trp (c.574C>T); ClinVar=VCV000215235; Zygosity=Heterozygous (Coriell=GM28862).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   NCIt; C176895; Mitochondrial complex IV deficiency, nuclear type 1
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2YP ! GM28010
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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