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Cellosaurus GM03813 (CVCL_F172)

[Text version]
Cell line name GM03813
Synonyms GM 3813; SMA1FABE
Accession CVCL_F172
Resource Identification Initiative To cite this cell line use: GM03813 (RRID:CVCL_F172)
Comments Problematic cell line: Misclassified. Originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2) (PubMed=28284873).
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; HGNC:11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM03813).
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM03813).
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 Children:
CVCL_T825 (GM24468)CVCL_C877 (iPS-SMA-3.5)CVCL_C878 (iPS-SMA-3.6)
CVCL_UB64 (WC019i-SMA-GM13)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
STR profile Source(s): PubMed=28284873

Markers:
AmelogeninX,Y
CSF1PO9,10
D5S81811,13
D7S8209,10
D13S3179,11
D16S53911,12
D21S1129,30
TH016,7
TPOX8
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=3941662; DOI=10.1016/0027-5107(86)90121-1
Scudiero D.A., Polinsky R.J., Brumback R.A., Tarone R.E., Nee L.E., Robbins J.H.
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical.
Mutat. Res. 159:125-131(1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262
Liu H.-S., Lu J.-F., Chen H., Du Z.-W., Li X.-J., Zhang S.-C.
Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.
Sci. Rep. 5:12189.1-12189.13(2015)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W., Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W., Scavina M., Sol-Church K., Butchbach M.E.R.
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Mol. Genet. Genomic Med. 3:248-257(2015)

PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612
Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O., Sol-Church K., Butchbach M.E.R.
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Neuromuscul. Disord. 27:439-446(2017)

Cross-references
Cell line collections (Providers) Coriell; GM03813
Cell line databases/resources CLO; CLO_0015532
Biological sample resources BioSample; SAMN00808545
Encyclopedic resources Wikidata; Q54838249
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number21