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Cellosaurus IAIi002-A (CVCL_VM13)

[Text version]

Cell line name IAIi002-A
Synonyms IAIi002; 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

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=31491690; DOI=10.1016/j.scr.2019.101553
Alari V., Russo S., Rovina D., Garzo M., Crippa M., Calzari L., Scalera C., Concolino D., Castiglioni E., Giardino D., Prosperi E., Finelli P., Gervasini C., Gowran A., Larizza L.
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Stem Cell Res. 40:101553-101553(2019)

Cell line databases/resources hPSCreg; IAIi002-A
Biological sample resources BioSamples; SAMEA4861901
Entry history
Entry creation07-Sep-2018
Last entry updated19-Dec-2019
Version number2