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Cellosaurus ICGi015-A (CVCL_XY44)

[Text version]
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; 30213; ATP13A2; Simple; p.Pro1172Pro (c.3516G>A) (p.Ala1072Thr, c.3214G>A); ClinVar=VCV000128475; Zygosity=Heterozygous (PubMed=31733442).
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Ala419Val (c.1256C>T); ClinVar=VCV000039131; Zygosity=Heterozygous (PubMed=31733442).
  • Mutation; 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 D.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)

Cross-references
Cell line databases/resources hPSCreg; ICGi015-A
SKIP; SKIP005585
Biological sample resources BioSamples; SAMEA6098039
Encyclopedic resources Wikidata; Q94313448
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7