NTCC® NA05168 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05168

Name：NTCC® NA05168 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05168
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: 28 YR
Gender性别: Female
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22
Remarks: Clinically affected; high arches of feet; difficulty with running as a teenager; marked equinus deformity of the foot with early hammer toes; marked weakness of the foot extensors; mildly reduced sensation to pin and light touch; walks with slight steppage gait; normal strength in bulk in upper extremities; normal strength of psoas, quadriceps, hamstrings, and gastrocnemius muscles; no palpably enlarged nerves noted peripherally; affected father is GM05166; EMG performed at age 28 was "compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease."; see GM05167 fibroblast; 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)
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