GM23721 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | MYELIN PROTEIN ZERO; MPZ B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23721 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | MYELIN PROTEIN ZERO; MPZ B-Lymphocyte Cell Line
腓骨肌萎缩症，脱髓鞘，1B 型； CMT1B |髓鞘蛋白零； MPZ细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23721
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:81 YR
Gender性别:Female
Cell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | MYELIN PROTEIN ZERO; MPZ
Affected State:Yes
Product:LCL
Gene:MPZ
Mutations突变:SER140THR
Ethnicity:SWEDISH
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
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