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Cellosaurus CSSi010-A (CVCL_XI72)

[Text version]
Cell line name CSSi010-A
Synonyms GNB5_KO#5A
Accession CVCL_XI72
Resource Identification Initiative To cite this cell line use: CSSi010-A (RRID:CVCL_XI72)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4401; GNB5; Simple_edited; c.204_208delCATGG; Zygosity=Homozygous; Note=By CRISPR/Cas9 (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 Female
Age at sampling 48Y
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; CSSi010-A
Encyclopedic resources Wikidata; Q93459740
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8