GM16753 CYSTINURIA; CSNU | SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16753 CYSTINURIA; CSNU | SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9 B-Lymphocyte Cell Line
胱氨酸尿症；中南师范大学 |溶质载体家族 7，成员 9； SLC7A9细胞株
Description描述：Clinically affected; recurrent nephrolithiasis beginning in childhood; urine cystine levels markedly elevated (4593 micromol/24 hours); patient underwent uninephrectomy at age 15 because of severe nephrolithiasis; no family history; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1352 which converts the thr-389 codon in exon 11 of the SLC7A9 gene to a methionine [THR389MET (T389M)]; the other allele contains a splice site mutation (789+2 T-C).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM16753
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:41 YR
Gender性别:Female
Cell Type细胞类型: CYSTINURIA; CSNU | SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9
Affected State:Yes
Product:LCL
Gene:SLC7A9
Mutations突变:789+2T>C THR389MET
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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