ID   GM27120
AC   CVCL_A2PW
DR   Coriell; GM27120
DR   Wikidata; Q105507088
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Heterozygous (Coriell=GM27120).
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Arg466Gln (c.1397G>A); ClinVar=VCV000004492; Zygosity=Heterozygous (Coriell=GM27120).
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   34Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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