ID   GM27104
AC   CVCL_WP05
DR   Coriell; GM27104
DR   Wikidata; Q93933002
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Met1Val (c.1A>G); ClinVar=VCV000004491; Zygosity=Heterozygous (Coriell=GM27104).
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Gly315Ser (c.943G>A); ClinVar=VCV000004496; Zygosity=Heterozygous (Coriell=GM27104).
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   Female
AG   6Y
CA   Transformed cell line
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
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