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Cellosaurus KCi001-A (CVCL_VP78)

[Text version]
Cell line name KCi001-A
Synonyms BBS1 Clone 10; BBS1 Clone10
Accession CVCL_VP78
Resource Identification Initiative To cite this cell line use: KCi001-A (RRID:CVCL_VP78)
Comments From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 966; BBS1; Simple; p.Gly379Arg (c.1135G>C); Zygosity=Heterozygous (PubMed=30142598).
  • Mutation; HGNC; 966; BBS1; Simple; p.Met390Arg (c.1169T>G); ClinVar=VCV000012143; Zygosity=Heterozygous (PubMed=30142598).
Disease Bardet-Biedl syndrome (NCIt: C118632)
Bardet-Biedl syndrome (ORDO: Orphanet_110)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=30142598; DOI=10.1016/j.scr.2018.08.005
Hey C.A.B., Saltokowa K.B., Larsen L.J., Tumer Z., Brondum-Nielsen K., Gronskov K., Hjortshoj T.D., Moller L.B.
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
Stem Cell Res. 31:235-239(2018)

Cross-references
Cell line databases/resources hPSCreg; KCi001-A
Encyclopedic resources Wikidata; Q94337483
Entry history
Entry creation07-Sep-2018
Last entry update05-Oct-2023
Version number12