ID   ICGi024-A
AC   CVCL_ZX51
SY   iPSC-r(18)-3; iTAF12-19
DR   BioSamples; SAMEA7178105
DR   hPSCreg; ICGi024-A
DR   Wikidata; Q102114198
RX   PubMed=33212351;
RX   PubMed=33619287;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Karyotypic information: 46,XY,r(18) [50]; 45,XY,-18 [6]; 47,XY,r(18),r(18) [1] (PubMed=33212351).
CC   Omics: Array-based CGH.
CC   Omics: SNP array analysis.
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; C175706; Ring chromosome 18 syndrome
DI   ORDO; Orphanet_1442; Ring chromosome 18 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A7MS ! TAF12
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33212351; DOI=10.1016/j.scr.2020.102076;
RA   Khabarova A.A., Pristyazhnyuk I.E., Orlova P.A., Nikitina T.V.,
RA   Kashevarova A.A., Lopatkina M.E., Belyaeva E.O., Sukhanova N.N.,
RA   Nazarenko L.P., Lebedev I.N., Serov O.L.;
RT   "Generation of iPSC line ICGi024-A from human skin fibroblasts of a
RT   patient with ring chromosome 18.";
RL   Stem Cell Res. 49:102076-102076(2020).
//
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).
//