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Cellosaurus IAIi003-A (CVCL_VM14)

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Cell line name IAIi003-A
Synonyms IAIi003; IAIi003RSTS1-46-A
Accession CVCL_VM14
Resource Identification Initiative To cite this cell line use: IAIi003-A (RRID:CVCL_VM14)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Population: Caucasian.
Omics: Variations; Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2348; CREBBP; Simple; p.Asp1543Tyr (c.4627G>T); Zygosity=Heterozygous (PubMed=29883886; PubMed=31491690).
Disease Rubinstein-Taybi syndrome type 1 (NCIt: C153290)
Rubinstein-Taybi syndrome due to CREBBP mutations (ORDO: Orphanet_353277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
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=31491690; DOI=10.1016/j.scr.2019.101553
Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, Daniela Concolino, Elisa Castiglioni, Daniela Giardino, Ennio Prosperi ...Show all 15 authors... , Palma Finelli, Cristina Gervasini, Aoife Gowran, Lidia Larizza; Show fewer authors
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)

Cross-references
Cell line databases/resources hPSCreg; IAIi003-A
Biological sample resources BioSamples; SAMEA4862112
Encyclopedic resources Wikidata; Q94311612
Entry history
Entry creation07-Sep-2018
Last entry update10-Apr-2025
Version number11