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Cellosaurus BTHBIOi001-A (CVCL_F0RI)

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Cell line name BTHBIOi001-A
Synonyms BiPSC-HXL-CNGA1
Accession CVCL_F0RI
Resource Identification Initiative To cite this cell line use: BTHBIOi001-A (RRID:CVCL_F0RI)
Comments From: Beijing Institute of Ophthalmology, Beijing Tongren Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=40795580

Markers:
AmelogeninX
CSF1PO11,12
D1S165614,15.3
D2S133819,20
D3S135816,17
D5S81811
D6S104311,13
D7S82012
D8S117910,13
D12S39119,20
D13S3179,11
D16S53911
D18S5113,16
D19S43313,16
D21S1129
FGA18,21
Penta D9,13
Penta E13,18
TH018,9
TPOX8,9
vWA18,19

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Publications

PubMed=40795580; DOI=10.1016/j.scr.2025.103798
Ying Wang, Yan-Li Wang, Ming-Xia Du, Zi-Bing Jin, Xiao Zhang;
Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation.
Stem Cell Res. 87:103798-103798(2025)

Cross-references
Cell line databases/resources hPSCreg; BTHBIOi001-A
Biological sample resources BioSamples; SAMEA117516861
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1