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 Dinara V. Sharipova, Victoria R. Kovalenko, Elvira M. Bairamova, Valeriia A. Vartanova, Elena V. Grigor'eva, Yuri V. Vyatkin, Elena A. Khabarova, Jamil A. Rzaev, Suren Minasovich Zakian, Sergey P. Medvedev; 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