WIBR3_GBA1_IVS2_Het_3C3I; AECMe002-A-46细胞株NTCC® Cell Line -BioVector NTCC典型培养物保藏中心

[Designation名称] NTCC® WIBR3_GBA1_IVS2_Het_3C3I; AECMe002-A-46 Cell Line细胞株
BioVector NTCC Inc.

Synonyms细胞别名: Identifier: WIBRe001-A-46
Cross References:hPSCreg; WIBRe001-A-46
Accession:CVCL_D3YM
Cross References:BioSamples; SAMEA115873270
Cross References:Wikidata; Q127384698
Reference Identifiers:PubMed=38405931;
Comments:Sequence variation: Mutation; HGNC; 4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (PubMed=38405931).
Comments:Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Comments:Cell type: Embryonic stem cell; CL=CL_0002322.
Diseases:NCIt; C26845; Parkinson's disease
Diseases:ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
Species of origin:NCBI_TaxID=9606; ! Homo sapiens (Human)
Hierarchy:CVCL_9767 ! WIBR3
Sex of cell:Female
Age of donor at sampling:Blastocyst stage
[Organism物种来源]
[Disease疾病种类]
[Accession编号] NTCC®-Accession:CVCL_D3YM
[Comments描述]
[Reference参考文献]
[Category分类]
[Date保藏时间]
[Hierarchy]
培养方法：
Medium培养基：NTCC® WIBR3_GBA1_IVS2_Het_3C3I; AECMe002-A-46 Complete Medium
Growth properties形态：o贴壁 o悬浮：
Culture Condition培养条件：Temperature温度: 37°C.
Atmosphere: 95% Air, 5% CO2

Supplier生产厂家: BioVector NTCC典型培养物保藏中心
Website网址：www.biovector.net