EYS mutation细胞Cell Line BioVector NTCC®细胞保藏中心

[Designation名称] NTCC® Synonyms: EYS mutation Cell Line细胞株
BioVector NTCC Inc.

Synonyms细胞别名: Cell Line Name: MUi038-A
Cross-references: hPSCreg; MUi038-A
NTCC® Accession Number: CVCL_E4E2
Cross-references: BioSamples; SAMEA115419503
References identifiers: PubMed=38810502;
Comments: From: Mahidol University; Bangkok; Thailand.
Comments: Population: Southeast Asian; Thai.
Comments: Sequence variation: Mutation; HGNC; HGNC:21555; EYS; Simple; p.Cys2139Tyr (c.6416G>A); ClinVar=VCV000189230; Zygosity=Heterozygous (PubMed=38810502).
Comments: Sequence variation: Mutation; HGNC; HGNC:21555; EYS; Simple; p.Ala2410Aspfs*3 (c.7228+1G>A); ClinVar=VCV000658881; Zygosity=Heterozygous (PubMed=38810502).
Comments: Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Diseases: C85045; Retinitis pigmentosa
Diseases: Orphanet_791; Retinitis pigmentosa
Species of origin: NCBI_TaxID=9606; ! Homo sapiens (Human)
Sex of cell: Male
Age of donor at sampling: 38Y
[Organism物种来源]
[Disease疾病种类]
[Accession编号] NTCC®-NTCC® Accession Number: CVCL_E4E2
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[Reference参考文献]
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培养方法：
Medium培养基：NTCC® Synonyms: EYS mutation Complete Medium
Growth properties形态：贴壁/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质粒载体菌种细胞蛋白抗体基因保藏中心
Website网址：www.biovector.net