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Cellosaurus iPS-SMA-3.6 (CVCL_C878)

[Text version]
Cell line name iPS-SMA-3.6
Synonyms iPS SMA 3.6; IPS-SMA-3.6; iPS-SMA3.6; iPS-SMA clone 3.6; UW13iSMA-i.6; 13iSMA; GM23240
Accession CVCL_C878
Secondary accession CVCL_BV18; CVCL_F171; CVCL_Y792
Resource Identification Initiative To cite this cell line use: iPS-SMA-3.6 (RRID:CVCL_C878)
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: CNV analysis.
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

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)

PubMed=23665875; DOI=10.1534/g3.113.006577
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cell line collections (Providers) Coriell; GM23240
Cell line databases/resources ISCR; 312
SKIP; SKIP000185
SKIP; SKIP004350
Encyclopedic resources Wikidata; Q54898135
Gene expression databases GEO; GSM347917
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number22