ID   ICGi026-A
AC   CVCL_A1MJ
DR   BioSamples; SAMEA7484326
DR   hPSCreg; ICGi026-A
DR   Wikidata; Q102114200
RX   PubMed=33189043;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[27]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[60]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[110]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043).
CC   Sequence variation: Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[410]; ClinVar=VCV000009972; Zygosity=Mosaic (PubMed=33189043).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84717; Fragile X syndrome
DI   ORDO; Orphanet_908; Fragile X syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33189043; DOI=10.1016/j.scr.2020.102070;
RA   Gridina M.M., Orlova P.A., Minina J.M., Shitik E.M., Lemskaya N.A.,
RA   Grishchenko I.V., Dolskiy A.A., Shorina A.R., Maksimova Y.V.,
RA   Yudkin D.V., Serov O.L.;
RT   "Establishment of an induced pluripotent stem cell line (ICGi026-A)
RT   from peripheral blood mononuclear cells of a patient with fragile X
RT   syndrome.";
RL   Stem Cell Res. 49:102070-102070(2020).
//