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Cellosaurus CSSi007-A (CVCL_WK21)

[Text version]

Cell line name CSSi007-A
Synonyms CSSi007-A (4383); Joub07 cl1; COR11-NG708
Accession CVCL_WK21
Resource Identification Initiative To cite this cell line use: CSSi007-A (RRID:CVCL_WK21)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian; Italian.
Derived from sampling site: Skin; dermis.
Sequence variations Homozygous for AHI1 p.Arg723Gln (c.2168G>A) (ClinVar=VCV000002015) (PubMed=31202121).
Disease Joubert syndrome type 7 (NCIt: C159653)
Joubert syndrome with renal defect (ORDO: Orphanet_220497)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=31202121; DOI=10.1016/j.scr.2019.101480
Altieri F., D'Anzi A., Martello F., Tardivo S., Spasari I., Ferrari D., Bernardini L., Lamorte G., Mazzoccoli G., Valente E.M., Vescovi A.L., Rosati J.
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert syndrome.
Stem Cell Res. 38:101480-101480(2019)

Cross-references
Cell line databases/resources hPSCreg; CSSi007-A
Biological sample resources BioSamples; SAMEA5359104
Other Wikidata; Q93459733
Entry history
Entry creation24-May-2019
Last entry update02-Jul-2020
Version number4