ID   IBMS-iPSC-063-06
AC   CVCL_A1MC
SY   IBMSi021-A
DR   BCRC; SC81137
DR   BioSamples; SAMEA7332552
DR   hPSCreg; IBMSi021-A
DR   Wikidata; Q102114195
RX   PubMed=34364070;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:967; BBS2; Simple; c.534+1G>T; ClinVar=VCV000553927; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=34364070).
CC   Misspelling: IBMS-iPSC-063-05; Note=In Cellosaurus releases 36 and 37.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118632; Bardet-Biedl syndrome
DI   ORDO; Orphanet_110; Bardet-Biedl syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=34364070; DOI=10.1016/j.scr.2021.102480;
RA   Ting, Chien-Yu
RA   Huang, Ching-Ying
RA   Chen, Hung-Chih
RA   Chiu, Yi-Wen
RA   Hsieh, Patrick Ching-Ho
RA   Lee, Jia-Jung
RT   "Generation of induced pluripotent stem cells from a Bardet-Biedl
RT   syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation.";
RL   Stem Cell Res. 55:102480-102480(2021).
//