ID   ICGi014-A
AC   CVCL_XI91
SY   2M_iALS
DR   BioSamples; SAMEA6032304
DR   hPSCreg; ICGi014-A
DR   Wikidata; Q94313442
RX   PubMed=31830646;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Homozygous (PubMed=31830646).
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   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31830646; DOI=10.1016/j.scr.2019.101675;
RA   Ustyantseva E.I., Medvedev S.P., Vetchinova A.S., Illarioshkin S.N.,
RA   Leonov S.V., Zakian S.M.;
RT   "Generation of an induced pluripotent stem cell line, ICGi014-A, by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   homozygous D90A mutation in SOD1 causing amyotrophic lateral
RT   sclerosis.";
RL   Stem Cell Res. 42:101675-101675(2020).
//