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Cellosaurus UNIBSi011-A (CVCL_A1PV)

[Text version]
Cell line name UNIBSi011-A
Synonyms JS_MA_C3
Accession CVCL_A1PV
Resource Identification Initiative To cite this cell line use: UNIBSi011-A (RRID:CVCL_A1PV)
Comments From: University of Brescia; Brescia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Ser1290Pro (c.3868T>C); Zygosity=Heterozygous (PubMed=33010677).
  • Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Arg2493Ter (c.7477C>A); ClinVar=VCV000031223; Zygosity=Heterozygous (PubMed=33010677).
Disease Joubert syndrome 17 (NCIt: C175702)
Joubert syndrome (ORDO: Orphanet_475)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1PW ! UNIBSi011-B
CVCL_A1PX ! UNIBSi011-C
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=33010677; DOI=10.1016/j.scr.2020.102007
Ali E., Ferraro R.M., Lanzi G., Masneri S., Piovani G., Mazzoldi E.L., Serpieri V., Valente E.M., Giordano L., Giliani S.C.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene.
Stem Cell Res. 49:102007-102007(2020)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi011-A
Encyclopedic resources Wikidata; Q102115081
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7