Cellosaurus cell line ICGi014-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; ICGi014-A
Biological sample resources	BioSamples; SAMEA6032304
Encyclopedic resources	Wikidata; Q94313442
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8