ID   ND09407
AC   CVCL_BB65
DR   CLO; CLO_0012370
DR   Coriell; ND09407
DR   Wikidata; Q54922076
RX   PubMed=22815561;
CC   Population: Caucasian; English/Greek/Scottish.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous (PubMed=22815561).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   57Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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RX   PubMed=22815561; DOI=10.1212/WNL.0b013e31826170f1; PMCID=PMC3467648;
RA   Rutherford N.J., DeJesus-Hernandez M., Baker M.C., Kryston T.B.,
RA   Brown P.E., Lomen-Hoerth C., Boylan K., Wszolek Z.K., Rademakers R.;
RT   "C9ORF72 hexanucleotide repeat expansions in patients with ALS from
RT   the Coriell Cell Repository.";
RL   Neurology 79:482-483(2012).
//