ID   ICGi015-B
AC   CVCL_XY45
SY   m6.7
DR   BioSamples; SAMEA6098717
DR   hPSCreg; ICGi015-B
DR   SKIP; SKIP005584
DR   Wikidata; Q94313451
RX   PubMed=31733442;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 30213; ATP13A2; Simple; p.Pro1172Pro (c.3516G>A) (p.Ala1072Thr, c.3214G>A); ClinVar=VCV000128475; Zygosity=Heterozygous (PubMed=31733442).
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Ala419Val (c.1256C>T); ClinVar=VCV000039131; Zygosity=Heterozygous (PubMed=31733442).
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Met318Leu (c.952A>T); ClinVar=VCV000447942; Zygosity=Heterozygous (PubMed=31733442).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XY44 ! ICGi015-A
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31733442; DOI=10.1016/j.scr.2019.101652;
RA   Sharipova D.V., Kovalenko V.R., Bairamova E.M., Vartanova V.A.,
RA   Grigor'eva E.V., Vyatkin Y.V., Khabarova E.A., Rzaev D.A.,
RA   Zakian S.M., Medvedev S.P.;
RT   "Generation of two iPSC lines, (ICGi015-A and ICGi015-B), by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   Parkinson's disease.";
RL   Stem Cell Res. 41:101652-101652(2019).
//