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Cellosaurus iPS-SMA-3.5 (CVCL_C877)

[Text version]
Cell line name iPS-SMA-3.5
Synonyms iPS SMA 3.5; IPS-SMA-3.5; iPS-SMA3.5; iPS-SMA clone 3.5
Accession CVCL_C877
Resource Identification Initiative To cite this cell line use: iPS-SMA-3.5 (RRID:CVCL_C877)
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).
From: University of Wisconsin; Madison; USA.
Population: Caucasian.
Omics: Transcriptome analysis by microarray.
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 (from parent cell line).
  • Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=19098894).
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
Publications

PubMed=19098894; DOI=10.1038/nature07677
Ebert A.D., Yu J.-Y., Rose F.F. Jr., Mattis V.B., Lorson C.L., Thomson J.A., Svendsen C.N.
Induced pluripotent stem cells from a spinal muscular atrophy patient.
Nature 457:277-280(2009)

Cross-references
Cell line databases/resources ISCR; 313
Encyclopedic resources Wikidata; Q54898132
Gene expression databases GEO; GSM347916
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number17