GM23614 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23614 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA B-Lymphocyte Cell Line
骨干髓质狭窄伴恶性纤维组织细胞瘤细胞株
Description描述：Clinically affected; several atraumatic fractures of right and left tibia and fibula at ages 14 and 15 years; developed proximal muscle weakness at age 29; cannot walk uphill; difficulty combing hair, lifting food to mouth, and getting out of low chairs; needs handrail to ascend stairs; fine hand movements are difficult; myopathic waddle, complete foot drop and exertional dyspnea; soft thin skin; three inguinal hernias; hair turned gray in his early 20s; weakness and wasting of paraspinal muscles, quadriceps, tibialis anterior, and gastrocnemius muscles; wasted triceps, biceps muscles, and thenar eminences; easy bruising-similar to von Willebrand; alkaline phosphatase level 62 U/L (30-130 U/L); creatine phosphokinase 171 U/L (20-220 U/L);echocardiogram reveals mild pulmonary stenosis; normal pulmonary function test; normal collagen study skin biopsy; left deltoid muscle biopsy showed no necrotic or regenerating fibers, no inflammatory infiltrates or structural abnormalities, results of special IHC studies were normal; EMG showed two different populations of motor units, some appearing myopathic and some normal, no evidence of denervation; muscle fiber recruitment increased except in paraspinal muscles where very little muscle remains; biceps were myopathic with short duration and small potentials; first dorsal interosseus muscle was short duration; vastus medialis and tibialis posterior were wasted but showed only mild change; normal immunological studies; skeletal survey shows patchy sclerotic changes in ilia and femora; fractures of femoral shafts appearing to be fatigue fractures; increase in cortical bone thickness, pronounced primary bone trabeculae, and over-tubulation not typical of Paget disease, osteogeneis imperfecta tarda, osteopetrosis or fibrous dysplasia; osteomalacia like changes present in addition to infarction within bone changes; spondylolisthesis at L3; histology of bone fragments from a fracture repair showed abnormal cortical bone with irregularly shaped spaces filled with fibrous tissue, some lined by osteoid and uneven distribution of osteocytes with the bone; no large Pagetic osteoclasts or cement (reversal) lines were present; two affected daughters- GM23610 and GM23612; two affected cousins- GM23620 and GM23622.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23614
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:60 YR
Gender性别:Male
Cell Type细胞类型: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:3036
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