GM05168腓骨肌萎缩症，1A 型； CMT1A |外周髓磷脂蛋白 22； PMP22 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05168 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22 B-Lymphocyte Cell Line
腓骨肌萎缩症，1A 型； CMT1A |外周髓磷脂蛋白 22； PMP22细胞株
Description描述：Clinically affected; high arches of feet; difficulty with running as a teenager; marked equinus deformity of the foot with early hammer toes; marked weakness of the foot extensors; mildly reduced sensation to pin and light touch; walks with slight steppage gait; normal strength in bulk in upper extremities; normal strength of psoas, quadriceps, hamstrings, and gastrocnemius muscles; no palpably enlarged nerves noted peripherally; affected father is GM05166; EMG performed at age 28 was "compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease."; see GM05167 fibroblast; donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA; no mutations were found in the MPZ gene; donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM05168
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:28 YR
Gender性别:Female
Cell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22
Affected State:Yes
Product:LCL
Gene:PMP22
Mutations突变:DUP (17p)
Ethnicity:
Family:616
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
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