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Cellosaurus GM12552 (CVCL_9X25)

[Text version]
Cell line name GM12552
Accession CVCL_9X25
Resource Identification Initiative To cite this cell line use: GM12552 (RRID:CVCL_9X25)
Comments Part of: CEPH/French pedigree cell line collection.
Registration: CEPH Families Reference Panel; 6606.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:11117; SMN1; Triplication; Zygosity=Unspecified (PubMed=33197628).
  • Gene amplification; HGNC; HGNC:11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=33197628).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Web pages https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717
Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D., Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S., Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.
Characterization of reference materials for spinal muscular atrophy genetic testing: a genetic testing reference materials coordination program collaborative project.
J. Mol. Diagn. 23:103-110(2021)

Cross-references
Cell line collections (Providers) Coriell; GM12552
Cell line databases/resources CLO; CLO_0017942
Encyclopedic resources Wikidata; Q54845857
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11