ID   ND14587
AC   CVCL_BR60
DR   CLO; CLO_0019044
DR   Coriell; ND14587
DR   Wikidata; Q54926697
RX   PubMed=35467758;
RX   PubMed=35933467;
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (Coriell=ND14587).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   46Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 15
//
RX   PubMed=35467758; DOI=10.1111/eci.13798;
RA   Cunha-Oliveira T., Silva D.F., Segura L., Baldeiras I., Marques R.,
RA   Rosenstock T., Oliveira P.J., Silva F.S.G.;
RT   "Redox profiles of amyotrophic lateral sclerosis lymphoblasts with or
RT   without known SOD1 mutations.";
RL   Eur. J. Clin. Invest. 52:e13798.1-e13798.16(2022).
//
RX   PubMed=35933467; DOI=10.1007/s12035-022-02980-7;
RA   Cunha-Oliveira T., Carvalho M., Sardao V., Ferreiro E., Mena D.,
RA   Pereira F.B., Borges F., Oliveira P.J., Silva F.S.G.;
RT   "Integrative profiling of amyotrophic lateral sclerosis lymphoblasts
RT   identifies unique metabolic and mitochondrial disease fingerprints.";
RL   Mol. Neurobiol. 59:6373-6396(2022).
//