Cellosaurus cell line BIOi002-A (CVCL

Cellosaurus BIOi002-A (CVCL_A2YJ)

[Text][XML][JSON]

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; 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:

Amelogenin	X,Y
CSF1PO	12
D1S1656	14
D2S441	10,11
D2S1338	20,23
D3S1358	15,17
D5S818	10,12
D6S1043	13,14
D7S820	10,10.3
D8S1179	10,13
D12S391	19,22
D13S317	11,14
D16S539	11,12
D18S51	13,14
D19S433	14.2,15.2
D21S11	30
FGA	23,24
Penta D	11,12
Penta E	9,15
TH01	7,9
TPOX	8,11
vWA	17,18

Publications

PubMed=33752025; DOI=10.1016/j.scr.2021.102278
Xiao-Hui Zhang, Yue Xie, Ke Xu, Yang Li;
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 creation

12-Jan-2021

Last entry update

19-Dec-2024

Version number