ID   ICGi013-B
AC   CVCL_WU30
SY   iTAF13-27; iTAF13del27
DR   BioSamples; SAMEA5859256
DR   hPSCreg; ICGi013-B
DR   SKIP; SKIP005569
DR   Wikidata; Q94313439
RX   PubMed=31678775;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2176; CNTN6; Unexplicit; Microdeletion; Zygosity=Unspecified; Note=De novo mutation (PubMed=31678775).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C97250; Intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WU29 ! ICGi013-A
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31678775; DOI=10.1016/j.scr.2019.101591;
RA   Shnaider T.A., Pristyazhnyuk I.E., Menzorov A.G., Matveeva N.M.,
RA   Nikitina T.V., Khabarova A.A., Skryabin N.A., Kashevarova A.A.,
RA   Lopatkina M.E., Nazarenko L.P., Lebedev I.N., Serov O.L.;
RT   "Generation of four iPSC lines from two siblings with a microdeletion
RT   at the CNTN6 gene and intellectual disability.";
RL   Stem Cell Res. 41:101591-101591(2019).
//