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Cellosaurus IAIi001-A (CVCL_VM12)

[Text version]

Cell line name IAIi001-A
Synonyms IAIi001RSTS2-65-A
Accession CVCL_VM12
Resource Identification Initiative To cite this cell line use: IAIi001-A (RRID:CVCL_VM12)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Sequence variations Heterozygous for EP300 p.Lys1277Ter (c.3829A>T) (PubMed=29883886; PubMed=29944992).
Disease Rubinstein-Taybi syndrome type 2 (NCIt: C153291)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORDO: Orphanet_353284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell

PubMed=29883886; DOI=10.1016/j.scr.2018.05.019
Alari V., Russo S., Terragni B., Ajmone P.F., Sironi A., Catusi I., Calzari L., Concolino D., Marotta R., Milani D., Giardino D., Mantegazza M., Gervasini C., Finelli P., Larizza L.
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Stem Cell Res. 30:130-140(2018)

PubMed=29944992; DOI=10.1016/j.scr.2018.06.009
Alari V., Russo S., Rovina D., Gowran A., Garzo M., Crippa M., Mazzanti L., Scalera C., Prosperi E., Giardino D., Gervasini C., Finelli P., Pompilio G., Larizza L.
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A>T, p.(Lys1277*).
Stem Cell Res. 30:175-179(2018)

Cell line databases/resources hPSCreg; IAIi001-A
Biological sample resources BioSamples; SAMEA4760691
Entry history
Entry creation07-Sep-2018
Last entry updated12-Mar-20
Version number2