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Cellosaurus ICGi014-A (CVCL_XI91)

[Text version]
Cell line name ICGi014-A
Synonyms 2M_iALS
Accession CVCL_XI91
Resource Identification Initiative To cite this cell line use: ICGi014-A (RRID:CVCL_XI91)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Homozygous (PubMed=31830646).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=31830646; DOI=10.1016/j.scr.2019.101675
Ustyantseva E.I., Medvedev S.P., Vetchinova A.S., Illarioshkin S.N., Leonov S.V., Zakian S.M.
Generation of an induced pluripotent stem cell line, ICGi014-A, by reprogramming peripheral blood mononuclear cells from a patient with homozygous D90A mutation in SOD1 causing amyotrophic lateral sclerosis.
Stem Cell Res. 42:101675-101675(2020)

Cross-references
Cell line databases/resources hPSCreg; ICGi014-A
Biological sample resources BioSamples; SAMEA6032304
Encyclopedic resources Wikidata; Q94313442
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7