NTCC® NA16753 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16753

Name：NTCC® NA16753 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16753
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 41 YR
Gender性别: Female
Description描述: CYSTINURIA; CSNU | SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9
Remarks: 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).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SLC7A9
Disease疾病类型:
Mutations突变: 789+2T>C THR389MET
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Email：Biovector@163.com
http://www.biovector.net