ID   ICGi025-A
AC   CVCL_ZX52
SY   iPSC-r(8)-2; iTAF11-4
DR   BioSamples; SAMEA7180213
DR   hPSCreg; ICGi025-A
DR   Wikidata; Q102114199
RX   PubMed=33070101;
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(8)(p23;q24.3) [88]; 45,XY,-8 [11] (PubMed=33070101).
CC   Omics: Variations; Array-based CGH.
CC   Omics: Variations; 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; C175705; Ring chromosome 8 syndrome
DI   ORDO; Orphanet_1450; Ring chromosome 8 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A7ML ! TAF11
SX   Male
AG   1Y4M
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 7
//
RX   PubMed=33070101; DOI=10.1016/j.scr.2020.102024;
RA   Gridina, Maria M.
RA   Nikitina, Tatiana V.
RA   Orlova, Polina A.
RA   Minina, Julia M.
RA   Kashevarova, Anna A.
RA   Yakovleva, Yulia S.
RA   Lopatkina, Maria E.
RA   Vasilyev, Stanislav Anatolyevich
RA   Fedotov, Dmitry A.
RA   Mikhailik, Larisa I.
RA   Nazarenko, Lyudmila P.
RA   Lebedev, Igor N.
RA   Serov, Oleg L.
RT   "Establishment of an induced pluripotent stem cell line (ICGi025-A)
RT   from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.";
RL   Stem Cell Res. 49:102024-102024(2020).
//
RX   PubMed=33619287; DOI=10.1038/s41598-021-83399-3; PMCID=PMC7900208;
RA   Nikitina, Tatiana V.
RA   Kashevarova, Anna A.
RA   Gridina, Maria M.
RA   Lopatkina, Maria E.
RA   Khabarova, Anna Aleksandrovna
RA   Yakovleva, Yulia S.
RA   Menzorov, Aleksei G.
RA   Minina, Julia M.
RA   Pristyazhnyuk, Inna E.
RA   Vasilyev, Stanislav Anatolyevich
RA   Fedotov, Dmitry A.
RA   Serov, Oleg L.
RA   Lebedev, Igor N.
RT   "Complex biology of constitutional ring chromosomes structure and
RT   (in)stability revealed by somatic cell reprogramming.";
RL   Sci. Rep. 11:4325.1-4325.15(2021).
//