ID   GM19903
AC   CVCL_F097
DR   CLO; CLO_0028260
DR   Coriell; GM19903
DR   Wikidata; Q54850740
CC   Sequence variation: Mutation; HGNC; HGNC:4162; GARS1; Simple; p.Gly294Arg (c.880G>C) (G240R); ClinVar=VCV000009204; Zygosity=Heterozygous (Coriell=GM19903).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C122659; Charcot-Marie-Tooth disease type 2D
DI   ORDO; Orphanet_99938; Autosomal dominant Charcot-Marie-Tooth disease type 2D
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 16
//