GM00046胱氨酸中毒，肾病； CTNS |胱氨酸； CTNS成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00046 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：Increased intracellular cystine in fibroblasts; donor subject is hemizygous for a 5-bp deletion at nucleotide 545 in exon 5 of the CTNS gene [545delTCCTT] resulting in a substitution of arginine for isoleucine at codon 69 [Ile69Arg (I69R)] which causes a termination at codon 73; results from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that donor subject is hemizygous for mutations in the CTNS gene, allele 1: p.I69Rfs*5/c.206_210delTCCTT, allele 2: 57 kb deletion (exons 1-10), Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.
Category分类：Fibroblast
ID编号:NTCC®-GM00046
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: White
Age年龄:3 YR
Gender性别:Male
Cell Type细胞类型: CYSTINOSIS, NEPHROPATHIC; CTNS | CYSTINOSIN; CTNS
Affected State:Yes
Product:Fibroblast
Gene:CTNS
Mutations突变:5-BP DEL, NT545 57-KB DEL
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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