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Cellosaurus IAIi002-A (CVCL_VM13)

[Text version]

Cell line name IAIi002-A
Synonyms IAIi002RSTS1-34-A
Accession CVCL_VM13
Resource Identification Initiative To cite this cell line use: IAIi002-A (RRID:CVCL_VM13)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Sequence variations Heterozygous for CREBBP p.Gly1479Ter (c.4435G>T) (PubMed=29883886).
Disease Rubinstein-Taybi syndrome type 1 (NCIt: C153290)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; IAIi002-A
Biological sample resources BioSamples; SAMEA4861901
Entry history
Entry creation07-Sep-2018
Last entry updated07-Sep-2018
Version number1