Cellosaurus cell line KCi002-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; KCi002-A
Encyclopedic resources	Wikidata; Q94337486
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	11