ID   TAF5
AC   CVCL_A9Q1
SY   TAF-5
DR   Wikidata; Q102114967
RX   PubMed=29736186;
RX   PubMed=30144655;
RX   PubMed=33619287;
CC   Population: Caucasian.
CC   Omics: Array-based CGH.
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
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
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 17-03-22; Version: 5
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RX   PubMed=29736186; DOI=10.1186/s13039-018-0375-3;
RA   Kashevarova A.A., Belyaeva E.O., Nikonov A.M., Plotnikova O.V.,
RA   Skryabin N.A., Nikitina T.V., Vasilyev S.A., Yakovleva Y.S.,
RA   Babushkina N.P., Tolmacheva E.N., Lopatkina M.E., Savchenko R.R.,
RA   Nazarenko L.P., Lebedev I.N.;
RT   "Compound phenotype in a girl with r(22), concomitant microdeletion
RT   22q13.32-q13.33 and mosaic monosomy 22.";
RL   Mol. Cytogenet. 11:26.1-26.9(2018).
//
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).
//