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Cellosaurus UMB-4648 (CVCL_C2AR)

[Text version]
Cell line name UMB-4648
Accession CVCL_C2AR
Resource Identification Initiative To cite this cell line use: UMB-4648 (RRID:CVCL_C2AR)
Comments From: NICHD Brain and Tissue Bank for Developmental Disorders at the University of Maryland; Baltimore; USA.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
STR profile Source(s): PubMed=28284873

Markers:
AmelogeninX,Y
CSF1PO11,12
D5S81812,13
D7S82010,11
D13S3178,12
D16S53912
TH019.3
TPOX8
vWA15,17

Run an STR similarity search on this cell line
Publications

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
Encyclopedic resources Wikidata; Q114313188
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5