ID   IMGTi001-A
AC   CVCL_VQ13
SY   iPSC-r(22)-1; iTAF5-29
DR   BioSamples; SAMEA4862236
DR   hPSCreg; IMGTi001-A
DR   Wikidata; Q94316254
RX   DOI=10.1134/S1022795419100090;
RX   PubMed=30144655;
RX   PubMed=33619287;
CC   From: Research Institute of Medical Genetics; Tomsk; Russia.
CC   Population: Caucasian.
CC   Karyotypic information: r(22),del22q13.32-q13.33,dup22q13.32,del3q13.31 (PubMed=30144655).
CC   Derived from sampling site: Skin.
DI   NCIt; C157124; Phelan-McDermid syndrome
DI   NCIt; C179702; Ring chromosome 22 syndrome
DI   ORDO; Orphanet_48652; Monosomy 22q13.3
DI   ORDO; Orphanet_1446; Ring chromosome 22 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_A9Q1 ! TAF5
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 23-09-21; Version: 7
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RX   DOI=10.1134/S1022795419100090;
RA   Nikitina T.V., Kashevarova A.A., Lebedev I.N.;
RT   "Chromosomal instability and karyotype correction in human induced
RT   pluripotent stem cells.";
RL   Russ. J. Genet. 55:1183-1195(2019).
//
RX   PubMed=30144655; DOI=10.1016/j.scr.2018.08.012;
RA   Nikitina T.V., Menzorov A.G., Kashevarova A.A., Gridina M.M.,
RA   Khabarova A.A., Yakovleva Y.S., Lopatkina M.E., Kizilova E.A.,
RA   Vasilyev S.A., Serov O.L., Lebedev I.N.;
RT   "Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human
RT   skin fibroblasts with ring chromosome 22.";
RL   Stem Cell Res. 31:244-248(2018).
//
RX   PubMed=33619287; DOI=10.1038/s41598-021-83399-3;
RA   Nikitina T.V., Kashevarova A.A., Gridina M.M., Lopatkina M.E.,
RA   Khabarova A.A., Yakovleva Y.S., Menzorov A.G., Minina Y.A.,
RA   Pristyazhnyuk I.E., Vasilyev S.A., Fedotov D.A., Serov O.L.,
RA   Lebedev I.N.;
RT   "Complex biology of constitutional ring chromosomes structure and
RT   (in)stability revealed by somatic cell reprogramming.";
RL   Sci. Rep. 11:4325-4325(2021).
//