ID   BCHNi001-A
AC   CVCL_A0LI
SY   BCHi001-A
DR   BioSamples; SAMEA9465455
DR   hPSCreg; BCHNi001-A
DR   Wikidata; Q108819920
RX   PubMed=34146953;
CC   From: Department of Nephrology, Beijing Children's Hospital Affiliated to Capital Medical University; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:18758; BBS7; Simple; p.Asp252Asn (c.754G>A); Zygosity=Heterozygous (PubMed=34146953).
CC   Sequence variation: Mutation; HGNC; HGNC:18758; BBS7; Simple; c.849+1G>C; ClinVar=VCV001507819; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34146953).
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   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34146953; DOI=10.1016/j.scr.2021.102428;
RA   Fu Q., Wang H., Zhou N., Jiang Y.-P., Liang Y., Duan F., Mi L.;
RT   "Generation of a human iPSC line from a Bardet-Biedl syndrome patient
RT   compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G >
RT   A.";
RL   Stem Cell Res. 54:102428-102428(2021).
//