ID   GM23651
AC   CVCL_AZ47
DR   Coriell; GM23651
DR   Wikidata; Q54853196
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Homozygous (Coriell=GM23651).
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)
OI   CVCL_AZ51 ! GM24369
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//