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Cellosaurus GM23651 (CVCL_AZ47)

[Text version]
Cell line name GM23651
Accession CVCL_AZ47
Resource Identification Initiative To cite this cell line use: GM23651 (RRID:CVCL_AZ47)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Homozygous (Coriell=GM23651).
Disease Rigid spine muscular dystrophy 1 (NCIt: C126691)
Rigid spine syndrome (ORDO: Orphanet_97244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AZ51 ! GM24369
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23651
Encyclopedic resources Wikidata; Q54853196
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12