NTCC® NA23428 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23428

Name：NTCC® NA23428 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23428
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: 37 YR
Gender性别: Female
Description描述: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | PERIPHERAL MYELIN PROTEIN 22; PMP22
Remarks: Clinically affected; symptom onset at age 2 months; diagnosis at age 2 years; severe muscle deterioration; sleep apnea; scoliosis; neuropathic pain in feet; heterozygous for an A>G transition in exon 1 of the PMP22 gene resulting in the substitution of arginine for histidine at codon 12 [His12Arg (H12R)]; normal Charcot-Marie Tooth type 1A result on FISH testing: nuc ish 17p12(PMP22x2); negative for Myelin Protein Zero mutations by DGGE and sequencing; medications include Panadel Osteo; surgeries include spinal rod fusion; uses wheelchair.
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: HIS12ARG
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