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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.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3373; EP300; Simple; p.Lys1277Ter (c.3829A>T); Zygosity=Heterozygous (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
Publications

PubMed=29883886; DOI=10.1016/j.scr.2018.05.019
Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, Daniela Concolino, Rosa Marotta, Donatella Milani, Daniela Giardino ...Show all 15 authors... , Massimo Mantegazza, Cristina Gervasini, Palma Finelli, Lidia Larizza; Show fewer authors
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
Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini ...Show all 14 authors... , Palma Finelli, Giulio Pompilio, Lidia Larizza; Show fewer authors
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)

Cross-references
Cell line databases/resources hPSCreg; IAIi001-A
Biological sample resources BioSamples; SAMEA4760691
Encyclopedic resources Wikidata; Q94311605
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number8