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Cellosaurus KCi003-C (CVCL_YC33)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; KCi003-C
Encyclopedic resources Wikidata; Q94337492
Entry history
Entry creation19-Dec-2019
Last entry update05-Oct-2023
Version number9