GM24729 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24729 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 B-Lymphocyte Cell Line
包涵体肌病 2，常染色体隐性遗传； IBM2细胞株
Description描述：Clinically affected; progressive muscle weakness, proximal greater than distal; increasing weakness of upper and lower extremities; normal copy number of SMN1 and SMN2; whole blood genomic DNA sequencing of GNE coding region did not reveal any pathogenic variants; surgical neuropathology report for left quadriceps skeletal muscle biopsy at 47 years of age revealed primary myopathy with changes suggestive of hereditary inclusion body myopathy - rimmed vacuoles, fibers undergoing degeneration; absence of inflammatory infiltrate exclude possibility of inclusion body myositis and suggest the hereditary form of disease; morphology and histochemistry suggest mild denervation; H&E staining revealed variation the diameter of the muscle fibers with the large majority within a relatively narrow range (40-75 micrometers) and some markedly atrophic fibers - some with angulated profiles on cross sections and a few extremely atrophic appearing as small "nuclear bags"; other cytologic abnormalities include myofiber necrosis, phagocytosis, inclusion bodies, basophilic fibers with regeneration and other unidentified abnormalities; no significant fibrosis in the endomysium and perimysium; no inflammatory infiltrates, vasculitis, or granulomas; PAS and oil red O staining reveal normal amounts of glycogen and neutral lipids; histochemical staining for activity of ATPase and NADH revealed normal demarcation between type 1 and type 2 fibers; dark atrophic fibers were seen in sections stained for NADH activity, sometimes with angulated profiles on cross sections; immunoperoxidase stainings for sarcoglycans (alpha, delta, and beta), merosin, emerin, desmin, dystroglycan, myotillin, dysferlin, and spectrin show a normal membranous reaction pattern; Chron's disease; problems with a lumbar disc resulted in ordering of orthotics; family history for neuromuscular disease in: father, brother, paternal uncle and aunt, paternal grandmother, two paternal male cousins; two unaffected paternal cousins, unaffected fraternal twin; medications: Lamictal XR, Fluoxetine, Trazodone, Diovan HCT, Fish oil, Cyanocobalm
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24729
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:53 YR
Gender性别:Female
Cell Type细胞类型: INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:ENGLISH/GERMAN
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