GM05149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
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- 货 号:NTCC®---GM05149
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Name细胞名称:NTCC® GM05149 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; hypertrophic neuropathy; palpable nerves in neck and elbow; high arch of feet; moderate loss of intrinsic foot muscles; hammer toe deformities; moderate weakness of all ankle related musculature; atrophy and weakness distally; decreased sensation; affected family members inlcude 2 siblings, mother, 6 maternal aunts and uncles, and maternal grandfather; affected mother is GM05147; muscle biopsy demonstrated neuropathy; 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); same subject as GM28252 (iPSC) and GM05148 (fibroblast)Category分类:B-LymphocyteID编号:NTCC®-GM05149Size/Quantity数量: 1 Flask/2 VialsBiosafety Level生物安全级别:1Shipping Info运输方式: RT/Dry IceStorage储存方式: RT/Liquid NitrogenRace: WhiteAge年龄:19 YRGender性别:MaleCell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | PERIPHERAL MYELIN PROTEIN 22; PMP22Affected State:YesProduct:LCLGene:PMP22 Mutations突变:DUP (17p)Ethnicity:Family:614Relationship:probandKaryotype:Tissue Type组织来源:BloodComplete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete MediumSubculturing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 phaseCulture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°CSTR 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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