NTCC® NA12318 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA12318

Name：NTCC® NA12318 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12318
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: 44 YR
Gender性别: Male
Description描述: NORRIE DISEASE; NDP - 310600
Remarks: Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NDP
Disease疾病类型:
Mutations突变: LEU61PHE
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