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Cellosaurus CSSi001-A (CVCL_VD29)

[Text version]

Cell line name CSSi001-A
Synonyms CSSi001-A (2850); 2850; Joub03cl2; Joub03 cl2; COR419
Accession CVCL_VD29
Resource Identification Initiative To cite this cell line use: CSSi001-A (RRID:CVCL_VD29)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Sequence variations Homozygous for AHI1 p.His896Arg (c.2687A>G) (PubMed=29334628).
Disease Joubert syndrome type 3 (NCIt: C148259)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=29334628; DOI=10.1016/j.scr.2018.01.012
Rosati J., Altieri F., Tardivo S., Turco E.M., Goldoni M., Spasari I., Ferrari D., Bernardini L., Lamorte G., Valente E.M., Vescovi A.L.
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert syndrome: CSSi001-A (2850).
Stem Cell Res. 27:74-77(2018)

Cross-references
Cell line databases/resources hPSCreg; CSSi001-A
Biological sample resources BioSamples; SAMEA104620766
Other Wikidata; Q54814679
Entry history
Entry creation14-May-2018
Last entry updated07-Sep-2018
Version number2