ID   KCi001-A
AC   CVCL_VP78
SY   BBS1 Clone 10; BBS1 Clone10
DR   hPSCreg; KCi001-A
DR   Wikidata; Q94337483
RX   PubMed=30142598;
CC   From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 966; BBS1; Simple; p.Gly379Arg (c.1135G>C); Zygosity=Heterozygous (PubMed=30142598).
CC   Sequence variation: Mutation; HGNC; 966; BBS1; Simple; p.Met390Arg (c.1169T>G); ClinVar=VCV000012143; Zygosity=Heterozygous (PubMed=30142598).
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)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 05-10-23; Version: 12
//
RX   PubMed=30142598; DOI=10.1016/j.scr.2018.08.005;
RA   Hey C.A.B., Saltokowa K.B., Larsen L.J., Tumer Z., Brondum-Nielsen K.,
RA   Gronskov K., Hjortshoj T.D., Moller L.B.;
RT   "Generation of induced pluripotent stem cells, KCi001-A derived from a
RT   Bardet-Biedl syndrome patient compound heterozygous for the BBS1
RT   variants c.1169T>G/c.1135G>C.";
RL   Stem Cell Res. 31:235-239(2018).
//