NTCC® NA23721 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23721

Name：NTCC® NA23721 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23721
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: 81 YR
Gender性别: Female
Description描述: CHARCOT-MARIE-TOOTH DISEASE; TYPE UNKNOWN | MYELIN PROTEIN ZERO; MPZ
Remarks: Clinically affected; symptom onset at age 42 years; diagnosis at age 45 years; loss of balance; cannot stand alone without hanging onto something; severe lumbar spinal stenosis- canal size down to 6 to 7mm at L4-5; both legs weak with greater weakness on left; weakened dorsiflexion; abnormal needle EMG examination results-subacute neuropathic changes detected in all muscles sampled, including distal and proximal muscles, evidence of multilevel chronic L-S radiculopathy affecting muscles from the L3 to S1-2 on the left; heterozygous for a T>A transversion at nucleotide 418 of the MPZ gene resulting in the substitution of threonine for serine at codon 140 [Ser140Thr (S140T)]-this sequence alteration was reported by Athena diagnostics as an indeterminate result; no sequence alterations were identified in the following tests PMP22 dup/del, Cx32 sequencing, PMP22 sequencing, EGR2 sequencing, and NF-L sequencing; subject锟絪 daughter tested negative for CMTX mutations; assistive devices include: orthotics, hearing aid, and walker; occupational therapy; affected family members include:1 daughter, 2 maternal cousins, and 1 maternal uncle.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MPZ
Disease疾病类型:
Mutations突变: SER140THR
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