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Cellosaurus CSSi009-A (CVCL_XI71)

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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 site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4401; GNB5; Simple; p.Glu88Argfs*8 (c.262delG) (p.Glu46Argfs*8, c.136delG); ClinVar=VCV001210290; Zygosity=Homozygous (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
Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette Grant Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla;
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; SAMEA8325239
Encyclopedic resources Wikidata; Q93459738
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10