Home  |  Contact

Cellosaurus IAIi004-A (CVCL_VM15)

[Text version]

Cell line name IAIi004-A
Synonyms IAIi004; IAIi004RSTS1-149-A
Accession CVCL_VM15
Resource Identification Initiative To cite this cell line use: IAIi004-A (RRID:CVCL_VM15)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Sequence variations Heterozygous for CREBBP p.Trp1158Ter (c.3474G>A) (PubMed=29883886).
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 Male
Age at sampling 6Y
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; IAIi004-A
Biological sample resources BioSamples; SAMEA4862234
Other Wikidata; Q94311616
Entry history
Entry creation07-Sep-2018
Last entry update02-Jul-2020
Version number4