ID   IAIi001-A
AC   CVCL_VM12
SY   IAIi001RSTS2-65-A
DR   BioSamples; SAMEA4760691
DR   hPSCreg; IAIi001-A
RX   PubMed=29883886;
RX   PubMed=29944992;
CC   From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
CC   Sequence variation: Heterozygous for EP300 p.Lys1277Ter (c.3829A>T) (PubMed=29883886; PubMed=29944992).
DI   NCIt; C153291; Rubinstein-Taybi syndrome type 2
DI   ORDO; Orphanet_353284; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 12-03-20; Version: 2
//
RX   PubMed=29883886; DOI=10.1016/j.scr.2018.05.019;
RA   Alari V., Russo S., Terragni B., Ajmone P.F., Sironi A., Catusi I.,
RA   Calzari L., Concolino D., Marotta R., Milani D., Giardino D.,
RA   Mantegazza M., Gervasini C., Finelli P., Larizza L.;
RT   "iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi
RT   syndrome patients show morphological alterations and
RT   hypoexcitability.";
RL   Stem Cell Res. 30:130-140(2018).
//
RX   PubMed=29944992; DOI=10.1016/j.scr.2018.06.009;
RA   Alari V., Russo S., Rovina D., Gowran A., Garzo M., Crippa M.,
RA   Mazzanti L., Scalera C., Prosperi E., Giardino D., Gervasini C.,
RA   Finelli P., Pompilio G., Larizza L.;
RT   "Generation of the Rubinstein-Taybi syndrome type 2 patient-derived
RT   induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon
RT   23 stop mutation c.3829A>T, p.(Lys1277*).";
RL   Stem Cell Res. 30:175-179(2018).
//