GM05166腓骨肌萎缩症，1A 型； CMT1A B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05166 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A B-Lymphocyte Cell Line
腓骨肌萎缩症，1A 型； CMT1A细胞株
Description描述：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
Category分类：B-Lymphocyte
ID编号:NTCC®-GM05166
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:51 YR
Gender性别:Male
Cell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:616
Relationship:father
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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Email：Biovector@163.com
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