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Cellosaurus GM22592 (CVCL_BU77)

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Cell line name GM22592
Accession CVCL_BU77
Resource Identification Initiative To cite this cell line use: GM22592 (RRID:CVCL_BU77)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM22592).
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM22592).
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)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
STR profile Source(s): PubMed=28284873

Markers:
AmelogeninX,Y
CSF1PO8,10
D5S81811,14
D7S8209,10
D13S3178,14
D16S53912,13
TH019
TPOX8,11
vWA16

Run an STR similarity search on this cell line
Publications

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; GM22592
Encyclopedic resources Wikidata; Q54852641
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12