ID   GM23674
AC   CVCL_BW03
DR   Coriell; GM23674
DR   Wikidata; Q54853217
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Unspecified (Coriell=GM23674).
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   32Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//