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Cellosaurus IAIi003-A (CVCL_VM14)

[Text version]
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: Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; 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
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)

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 update29-Jun-2023
Version number9