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Cellosaurus GM03813 (CVCL_F172)

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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
Dominic A. Scudiero, Ronald J. Polinsky, Roger Alan Brumback, Robert E. Tarone, Linda E. Nee, Jay H. Robbins;
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical.
Mutat. Res. 159:125-131(1986)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Hui-Sheng Liu, Jian-Feng Lu, Hong Chen, Zhong-Wei Du, Xue-Jun Li, Su-Chun Zhang;
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
Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas Owen Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wen-Lan Wang, William Mackenzie, Mena Scavina ...Show all 13 authors... , Katia Sol-Church, Matthew E.R. Butchbach; Show fewer authors
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
Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E.R. Butchbach;
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