ID   KCi003-C
AC   CVCL_YC33
SY   BBS5 clone 5A; BBS5 cl. 5A
DR   hPSCreg; KCi003-C
DR   Wikidata; Q94337492
RX   PubMed=31760295;
CC   From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark.
CC   Population: African; Somali.
CC   Sequence variation: Mutation; HGNC; 970; BBS5; Simple; p.Gly72Ser (c.214G>A); ClinVar=VCV000006161; Zygosity=Homozygous (PubMed=31760295).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118632; Bardet-Biedl syndrome
DI   ORDO; Orphanet_110; Bardet-Biedl syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YC31 ! KCi003-A
OI   CVCL_YC32 ! KCi003-B
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 05-10-23; Version: 9
//
RX   PubMed=31760295; DOI=10.1016/j.scr.2019.101594;
RA   Hey C.A.B., Larsen L.J., Tumer Z., Brondum-Nielsen K., Gronskov K.,
RA   Hjortshoj T.D., Moller L.B.;
RT   "Generation and characterization of three isogenic induced pluripotent
RT   stem cell lines from a patient with Bardet-Biedl syndrome and
RT   homozygous for the BBS5 variant.";
RL   Stem Cell Res. 41:101594-101594(2019).
//