GM17888 CYSTINOSIS, ADULT NONNEPHROPATHIC | CYSTINOSIN; CTNS Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17888 CYSTINOSIS, ADULT NONNEPHROPATHIC | CYSTINOSIN; CTNS Cell Line
胱氨酸中毒，成人非肾病 |胱氨酸； CT神经网络细胞株
Description描述：Clinically affected; diagnosis at age 6; mild disease; mild photophobia; case #1 in Anikster et al Ped Res 47:17-23, 2000; donor subject is a compound heterozygote: allele one has a C>G transversion at the -3 position of the acceptor splice site of IVS10 (IVS10-3C>G) (IVS11-3C>G in RefSeq NM_004937) which results in an insertion of 182 bp between exons 10 and 11 of the CTNS gene and predicts a protein with 28 incorrect amino acids inserted terminating at residue 313; allele two has a 5 bp deletion at nucleotide 545 (545delTCCTT) in exon 5 (exon 6 in RefSeq NM_004937) resulting in a frameshift at codon 69 and a stop at codon 73 [Ile69ter (I69Xfs73)]
Category分类：Fibroblast
ID编号:NTCC®-GM17888
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:26 YR
Gender性别:Male
Cell Type细胞类型: CYSTINOSIS, ADULT NONNEPHROPATHIC | CYSTINOSIN; CTNS
Affected State:Yes
Product:Fibroblast
Gene:CTNS
Mutations突变:5-BP DEL, NT545 IVS10AS,C>G,-3
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
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