ID   GM27127
AC   CVCL_WP12
DR   Coriell; GM27127
DR   Wikidata; Q93933019
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Arg268Cys (c.802C>T); ClinVar=VCV000657794; Zygosity=Heterozygous (Coriell=GM27127).
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Arg469Gln (c.1406G>A); ClinVar=VCV000461629; Zygosity=Heterozygous (Coriell=GM27127).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126691; Rigid spine muscular dystrophy 1
DI   ORDO; Orphanet_97244; Rigid spine syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Transformed cell line
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
//