ID   GM29132
AC   CVCL_D6WS
SY   GM29132*B
DR   Coriell; GM29132
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Asn178Glufs*9 (c.532_535delAATA); ClinVar=VCV000372719; Zygosity=Heterozygous (Coriell=GM29132).
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_B3SE ! GM28063
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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