NTCC® NA05166 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05166

Name：NTCC® NA05166 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05166
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: 51 YR
Gender性别: Male
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
Remarks: Clinically affected; increasing contractures in feet, legs, and hands since teenage years; increasing tightness of fingers over many years; increasing weakness in feet; wheelchair bound for past 3-5 years; dorsal and popliteal pulses unable to be felt; fairly marked contractures of both Achilles tendons; unable to move toes; significant contractures of fingers on both hands, specifically fexion contractures of the third, fourth, and fifth fingers but flexion of the thumb and flexion and extension of the index finger were preserved; unable to elicit any deep tendon reflexes; no pinprick sensation below the mid-forearm; partial sensation to pinprick between mid-forearm and shoulder; normal pinprick on the medial side of the thighs but none on the lateral aspect; no pinprick sensation below knees; unable to raise left leg against gravity; able to raise right knee against gravity but not the heel; able to extend arms 90 degrees; good strength for extension and flexion at elbow; complete atrophy of the intrinsic muscles of both hands; forearm muscles considerably wasted; no palpable enlargement of any peripheral nerves; history of myocardial infarctions, high blood pressure, edema of the legs with secondary stasis dermatitis and ulceration of the foot, and brain hemorrhage at age 29; affected daughter is GM05168; see GM05165 fibroblast
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
Disease疾病类型:
Mutations突变:
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