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Cellosaurus KCi002-A (CVCL_UG22)

[Text version]
Cell line name KCi002-A
Synonyms BBS10 Clone1A; BBS-10 Clone1A
Accession CVCL_UG22
Resource Identification Initiative To cite this cell line use: KCi002-A (RRID:CVCL_UG22)
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; 26291; BBS10; Simple; p.Cys91Leufs*5 (c.271dupT) (271insT); ClinVar=VCV000001328; Zygosity=Homozygous (PubMed=30312873).
Disease Bardet-Biedl syndrome (NCIt: C118632)
Bardet-Biedl syndrome (ORDO: Orphanet_110)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=30312873; DOI=10.1016/j.scr.2018.09.013
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, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
Stem Cell Res. 33:46-50(2018)

Cross-references
Cell line databases/resources hPSCreg; KCi002-A
Encyclopedic resources Wikidata; Q94337486
Entry history
Entry creation13-Nov-2018
Last entry update05-Oct-2023
Version number10