GM23424 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2; SUBTYPE UNKNOWN B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23424 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2; SUBTYPE UNKNOWN B-Lymphocyte Cell Line
夏科-玛丽-图斯病，轴突，2 型；亚型未知细胞株
Description描述：Affected; symptom onset at age 53 years; diagnosis at age 55 years; history of scoliosis, poor balance and weakness in feet/ankles; bilateral foot drop; unable to heel walk or toe walk; absent tendon reflexes at wrists, knees and ankles; plantar reflexes neutral; vibratory sensation diminished in toes; temperature sensation diminished in both feet ; flatfooted steppage gait; subject also has a history of depression and psoriasis; abnormal EMG results: evidence of a progressive, severe axonal sensorimotor polyneuropathy; sural nerve biopsy revealed thinly myelinated axons and axonal dropout; surgical pathology results: chronic, long-standing denervation atrophy and chronic axial neuropathy; environmental/acquired neuropathy ruled out by negative results on the following: heavy metal screen, thyroid, B12, urine GM1 and anti GD1b and GD1a; Genetic testing: subject was found to be negative for mutations in the CX32, MPZ, EGR2, NFL, PRX, GDAP1, LITAF, MFN2, SH3TC2, and FIG4 by sequencing; subject was also found to be negative for duplications, deletions and mutations of the PMP22 gene; assistive devices include: braces and orthotics; treatments include ritalin; physical, occupational, psychological therapy; braces and ankle foot orthotics; family history: mother had neuropathy with an abnormal gait late in life, however it is uncertain if this was due to her alcoholism or CMT.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23424
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:59 YR
Gender性别:Female
Cell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2; SUBTYPE UNKNOWN
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:NORTHERN EUROPEAN/ITALIAN
Family:
Relationship:proband
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net