ID   KCi002-A
AC   CVCL_UG22
SY   BBS10 Clone1A; BBS-10 Clone1A
DR   hPSCreg; KCi002-A
DR   Wikidata; Q94337486
RX   PubMed=30312873;
CC   From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 26291; BBS10; Simple; p.Cys91Leufs*5 (c.271dupT) (271insT); ClinVar=VCV000001328; Zygosity=Homozygous (PubMed=30312873).
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   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 05-10-23; Version: 10
//
RX   PubMed=30312873; DOI=10.1016/j.scr.2018.09.013;
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, KCi002-A derived from a
RT   patient with Bardet-Biedl syndrome homozygous for the BBS10 variant
RT   c.271insT.";
RL   Stem Cell Res. 33:46-50(2018).
//