NTCC® NA05149 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05149

Name：NTCC® NA05149 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05149
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: 19 YR
Gender性别: Male
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22
Remarks: Clinically affected; hypertrophic neuropathy; palpable nerves in neck and elbow; high arch of feet; moderate loss of intrinsic foot muscles; hammer toe deformities; moderate weakness of all ankle related musculature; atrophy and weakness distally; decreased sensation; affected family members inlcude 2 siblings, mother, 6 maternal aunts and uncles, and maternal grandfather; affected mother is GM05147; muscle biopsy demonstrated neuropathy; donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA; no mutations were found in the MPZ gene; donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383); same subject as GM28252 (iPSC) and GM05148 (fibroblast)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PMP22
Disease疾病类型:
Mutations突变: DUP (17p)
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