ID   IMGTi003-A
AC   CVCL_UJ69
SY   iPSC-r(13)-1; iTAF6-6
DR   BioSamples; SAMEA5044543
DR   hPSCreg; IMGTi003-A
DR   Wikidata; Q94316262
RX   DOI=10.1134/S1022795419100090;
RX   PubMed=30500678;
RX   PubMed=33619287;
CC   From: Research Institute of Medical Genetics; Tomsk; Russia.
CC   Population: Caucasian.
CC   Karyotypic information: 46,XY,r(13) [19]; 45,XY,-13 [2]; 46,XY,-13,+mar [1] (PubMed=30500678).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C116942; Developmental delay
DI   NCIt; C179703; Ring chromosome 13 syndrome
DI   ORDO; Orphanet_96176; Ring chromosome 13 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9Q2 ! TAF6
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 8
//
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=30500678; DOI=10.1016/j.scr.2018.11.009;
RA   Nikitina T.V., Menzorov A.G., Kashevarova A.A., Gridina M.M.,
RA   Khabarova A.A., Yakovleva Y.S., Lopatkina M.E., Pristyazhnyuk I.E.,
RA   Vasilyev S.A., Serov O.L., Lebedev I.N.;
RT   "Induced pluripotent stem cell line, IMGTi003-A, derived from skin
RT   fibroblasts of an intellectually disabled patient with ring
RT   chromosome 13.";
RL   Stem Cell Res. 33:260-264(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).
//