ID   GM04368
AC   CVCL_4N43
DR   CLO; CLO_0019307
DR   Coriell; GM04368
DR   Wikidata; Q54838500
CC   Sequence variation: Mutation; HGNC; HGNC:7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (Coriell=GM04368).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84798; Kearns-Sayre syndrome
DI   ORDO; Orphanet_480; Kearns-Sayre syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//