ID   GM24467
AC   CVCL_AZ55
DR   Coriell; GM24467
DR   Wikidata; Q54853762
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Val48Serfs*18 (c.142delG); ClinVar=VCV002419559; Zygosity=Heterozygous (Coriell=GM24467).
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Gly315Ser (c.943G>A); ClinVar=VCV000004496; Zygosity=Heterozygous (Coriell=GM24467).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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