ID   BTHBIOi001-A
AC   CVCL_F0RI
SY   BiPSC-HXL-CNGA1
DR   BioSamples; SAMEA117516861
DR   hPSCreg; BTHBIOi001-A
RX   PubMed=40795580;
CC   From: Beijing Institute of Ophthalmology, Beijing Tongren Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2148; CNGA1; Simple; p.Arg420Gln (c.1259G>A); ClinVar=VCV000225316; Zygosity=Homozygous (PubMed=40795580).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=40795580
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D12S391: 19,20
ST   D13S317: 9,11
ST   D16S539: 11
ST   D18S51: 13,16
ST   D19S433: 13,16
ST   D1S1656: 14,15.3
ST   D21S11: 29
ST   D2S1338: 19,20
ST   D3S1358: 16,17
ST   D5S818: 11
ST   D6S1043: 11,13
ST   D7S820: 12
ST   D8S1179: 10,13
ST   FGA: 18,21
ST   Penta D: 9,13
ST   Penta E: 13,18
ST   TH01: 8,9
ST   TPOX: 8,9
ST   vWA: 18,19
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=40795580; DOI=10.1016/j.scr.2025.103798;
RA   Wang, Ying
RA   Wang, Yan-Li
RA   Du, Ming-Xia
RA   Jin, Zi-Bing
RA   Zhang, Xiao
RT   "Generation of a human iPSC line (BTHBIOi001-A) from a retinitis
RT   pigmentosa patient with CNGA1 gene mutation.";
RL   Stem Cell Res. 87:103798-103798(2025).
//