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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.
Population: Caucasian; Italian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 21575; AHI1; Simple; p.His896Arg (c.2687A>G); ClinVar=VCV000217532; Zygosity=Homozygous (PubMed=29334628).
Disease Joubert syndrome type 3 (NCIt: C148259)
Joubert syndrome with ocular defect (ORDO: Orphanet_220493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; CSSi001-A
SKIP; SKIP002980
Biological sample resources BioSamples; SAMEA104620766
Other Wikidata; Q54814679
Entry history
Entry creation14-May-2018
Last entry update20-May-2021
Version number7