Cellosaurus cell line ICGi015-A (CVCL

Cellosaurus ICGi015-A (CVCL_XY44)

Cross-references
Cell line name	ICGi015-A
Synonyms	m6.6
Accession	CVCL_XY44
Resource Identification Initiative	To cite this cell line use: ICGi015-A (RRID:CVCL_XY44)
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:30213; ATP13A2; Simple; p.Pro1172Pro (c.3516G>A) (p.Ala1072Thr, c.3214G>A); ClinVar=VCV000128475; Zygosity=Heterozygous (PubMed=31733442). Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ala419Val (c.1256C>T); ClinVar=VCV000039131; Zygosity=Heterozygous (PubMed=31733442). Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Met318Leu (c.952A>T); ClinVar=VCV000447942; Zygosity=Heterozygous (PubMed=31733442).
Disease	Parkinson disease 8, autosomal dominant (NCIt: C198605) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_XY45 ! ICGi015-B
Sex of cell	Female
Age at sampling	58Y
Category	Induced pluripotent stem cell
Publications	PubMed=31733442; DOI=10.1016/j.scr.2019.101652 Sharipova D.V., Kovalenko V.R., Bairamova E.M., Vartanova V.A., Grigor'eva E.V., Vyatkin Y.V., Khabarova E.A., Rzaev J.A., Zakian S.M., Medvedev S.P. Generation of two iPSC lines, (ICGi015-A and ICGi015-B), by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease. Stem Cell Res. 41:101652-101652(2019)
Cell line databases/resources	hPSCreg; ICGi015-A SKIP; SKIP005585
Biological sample resources	BioSamples; SAMEA6098039
Encyclopedic resources	Wikidata; Q94313448
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8