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Cellosaurus CSSi009-A (CVCL_XI71)

[Text version]

Cell line name CSSi009-A
Synonyms GDB1307_Z2#1
Accession CVCL_XI71
Resource Identification Initiative To cite this cell line use: CSSi009-A (RRID:CVCL_XI71)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Asian.
Derived from sampling site: Skin.
Sequence variations Homozygous for GNB5 p.Glu46fs*8 (c.136delG) (PubMed=31479876).
Disease Intellectual developmental disorder with cardiac arrhythmia (NCIt: C164154)
GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORDO: Orphanet_542306)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=31479876; DOI=10.1016/j.scr.2019.101547
Malerba N., Benzoni P., Squeo G.M., Milanesi R., Giannetti F., Sadleir L.G., Poke G., Augello B., Croce A.I., Barbuti A., Merla G.
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Stem Cell Res. 40:101547-101547(2019)

Cross-references
Cell line databases/resources hPSCreg; CSSi009-A
Biological sample resources BioSamples; SAMEA6098720
Other Wikidata; Q93459738
Entry history
Entry creation19-Dec-2019
Last entry update02-Jul-2020
Version number3