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Cellosaurus BIOi002-A (CVCL_A2YJ)

[Text version]
Cell line name BIOi002-A
Synonyms JWQ-C3-P6
Accession CVCL_A2YJ
Resource Identification Initiative To cite this cell line use: BIOi002-A (RRID:CVCL_A2YJ)
Comments From: Beijing Institute of Ophthalmology; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8140; OPA1; Simple; p.Val903Glyfs*3 (c.2708_2711delTTAG); ClinVar=VCV000005082; Zygosity=Heterozygous (PubMed=33752025).
Disease Optic atrophy 1 (NCIt: C169000)
Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33752025

Markers:
AmelogeninX,Y
CSF1PO12
D1S165614
D2S44110,11
D2S133820,23
D3S135815,17
D5S81810,12
D6S104313,14
D7S82010,10.3
D8S117910,13
D12S39119,22
D13S31711,14
D16S53911,12
D18S5113,14
D19S43314.2,15.2
D21S1130
FGA23,24
Penta D11,12
Penta E9,15
TH017,9
TPOX8,11
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=33752025; DOI=10.1016/j.scr.2021.102278
Zhang X.-H., Xie Y., Xu K., Li Y.
Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy.
Stem Cell Res. 53:102278-102278(2021)

Cross-references
Cell line databases/resources hPSCreg; BIOi002-A
Biological sample resources BioSamples; SAMEA7851595
Encyclopedic resources Wikidata; Q105506485
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4