ID   GM23603
AC   CVCL_IZ53
DR   Coriell; GM23603
DR   Wikidata; Q54853143
RX   PubMed=26247043;
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C132826; Charcot-Marie-Tooth disease, spinal, type I
DI   ORDO; Orphanet_139518; Distal hereditary motor neuropathy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 10-04-25; Version: 8
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RX   PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962;
RA   Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W.,
RA   Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W.,
RA   Scavina M., Sol-Church K., Butchbach M.E.R.;
RT   "SMN1 and SMN2 copy numbers in cell lines derived from patients with
RT   spinal muscular atrophy as measured by array digital PCR.";
RL   Mol. Genet. Genomic Med. 3:248-257(2015).
//