ID   GM12552
AC   CVCL_9X25
DR   CLO; CLO_0017942
DR   Coriell; GM12552
DR   Wikidata; Q54845857
RX   PubMed=33197628;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/French pedigree cell line collection.
CC   Registration: CEPH Families Reference Panel; 6606.
CC   Sequence variation: Gene amplification; HGNC; 11117; SMN1; Triplication; Zygosity=Unspecified (PubMed=33197628).
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=33197628).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 10
//
RX   PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011;
RA   Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D.,
RA   Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S.,
RA   Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.;
RT   "Characterization of reference materials for spinal muscular atrophy
RT   genetic testing: a genetic testing reference materials coordination
RT   program collaborative project.";
RL   J. Mol. Diagn. 23:103-110(2021).
//