ID   GM27142
AC   CVCL_YN28
DR   Coriell; GM27142
DR   Wikidata; Q93933033
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Trp453Cys (c.1359G>C); ClinVar=VCV000372502; Zygosity=Heterozygous (Coriell=GM27142).
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Glu474Aspfs*93 (c.1421_1422insC); ClinVar=VCV002100000; Zygosity=Heterozygous (Coriell=GM27142).
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   9Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
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