GM17885 CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17885 CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS Cell Line
胱氨酸中毒，肾病； CTNS |胱氨酸； CT神经网络细胞株
Description描述：Clinically affected; photophobia; corneal crystals; renal tubular Fanconi syndrome; proteinuria; glucosuria; generalized aminoaciduria; elevated white blood cell cystine; successful early treatment; similarly affected sister; donor subject is a compound heterozygote: one allele has a 57 kb deletion of exons 1 through 10 of the CTNS gene causing the elimination of expression of the protein and the second allele carries a 1261G>A mutation in exon 11 resulting in a Gly308-to-Arg substitution [Gly308Arg (G308R)]; Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66 confirmed these mutations with targeted next generation sequencing using human genome version hg19 and Sanger sequencing.
Category分类：Fibroblast
ID编号:NTCC®-GM17885
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:9 YR
Gender性别:Female
Cell Type细胞类型: CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS
Affected State:Yes
Product:Fibroblast
Gene:CTNS
Mutations突变:1261G>A 57-KB DEL
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
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