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Cellosaurus GM24468 (CVCL_T825)

[Text version]
Cell line name GM24468
Synonyms GM24468*D
Accession CVCL_T825
Resource Identification Initiative To cite this cell line use: GM24468 (RRID:CVCL_T825)
Comments Problematic cell line: Misclassified. Parent cell line originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2).
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM24468).
  • Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (from parent cell line).
Disease Spinal muscular atrophy type 2 (NCIt: C156310)
Proximal spinal muscular atrophy type 2 (ORDO: Orphanet_83418)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F172 (GM03813)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Cell line collections (Providers) Coriell; GM24468
Cell line databases/resources SKIP; SKIP000254
SKIP; SKIP004349
Encyclopedic resources Wikidata; Q54853763
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number17