ID   IAIi004-A
AC   CVCL_VM15
SY   IAIi004; IAIi004RSTS1-149-A
DR   BioSamples; SAMEA4862234
DR   hPSCreg; IAIi004-A
DR   Wikidata; Q94311616
RX   PubMed=29883886;
RX   PubMed=31491690;
CC   From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
CC   Sequence variation: Heterozygous for CREBBP p.Trp1158Ter (c.3474G>A) (PubMed=29883886).
DI   NCIt; C153290; Rubinstein-Taybi syndrome type 1
DI   ORDO; Orphanet_353277; Rubinstein-Taybi syndrome due to CREBBP mutations
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 02-07-20; Version: 4
//
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=31491690; DOI=10.1016/j.scr.2019.101553;
RA   Alari V., Russo S., Rovina D., Garzo M., Crippa M., Calzari L.,
RA   Scalera C., Concolino D., Castiglioni E., Giardino D., Prosperi E.,
RA   Finelli P., Gervasini C., Gowran A., Larizza L.;
RT   "Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from
RT   Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense
RT   c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense
RT   c.4627G>T, p.(Asp1543Tyr) mutations.";
RL   Stem Cell Res. 40:101553-101553(2019).
//