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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 sampling site: Peripheral blood.
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

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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
Other Wikidata; Q105506485
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2