Cellosaurus cell line KCi003-C (CVCL

Cross-references
Cell line name	KCi003-C
Synonyms	BBS5 clone 5A; BBS5 cl. 5A
Accession	CVCL_YC33
Resource Identification Initiative	To cite this cell line use: KCi003-C (RRID:CVCL_YC33)
Comments	From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark. Population: African; Somali. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:970; BBS5; Simple; p.Gly72Ser (c.214G>A); ClinVar=VCV000006161; Zygosity=Homozygous (PubMed=31760295).
Disease	Bardet-Biedl syndrome (NCIt: C118632) Bardet-Biedl syndrome (ORDO: Orphanet_110)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YC31 ! KCi003-A CVCL_YC32 ! KCi003-B
Sex of cell	Male
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=31760295; DOI=10.1016/j.scr.2019.101594 Hey C.A.B., Larsen L.J., Tumer Z., Brondum-Nielsen K., Gronskov K., Hjortshoj T.D., Moller L.B. Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant. Stem Cell Res. 41:101594-101594(2019)
Cell line databases/resources	hPSCreg; KCi003-C
Encyclopedic resources	Wikidata; Q94337492
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10