GM25494 NEMALINE MYOPATHY - TYPE UNKNOWN B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25494 NEMALINE MYOPATHY - TYPE UNKNOWN B-Lymphocyte Cell Line
线形肌病 - 类型未知细胞株
Description描述：Clinically affected; muscle weakness in arms and legs; esotropia; began walking at 1.5 years of age and frequently fell in childhood; motor function achieved and maintained without assistance: holding head up, sitting, walking, difficulty climbing stairs (max achieved-4 stairs with handrail); able to run at 3 years of age but by age 13 max motor function: walking 40-50 blocks, shooting a basketball, but could not lift heavy objects; had scarlet fever around 9 years of age; at 13 years of age, skeletal system showed some muscular thinning in the upper extremities and pectoralis major, but no signs of scoliosis, kyphosis, or facial muscle weakness; significant proximal upper extremity and lower extremity weakness with some distal upper extremity weakness; mild scapular winging; Gowers' maneuver elicited; noted contracture of the Achilles' tendon bilaterally; slight steppage gait with rolling of hips to aid in lifting of feet; muscle biopsy histochemistry revealed primary myopathy, unusually mild with non-specific alterations; further evaluation of biopsy showed myofibers varied greatly in size (14u to 30u), all rounded in shape, with some smaller myofibers containing glycogen aggregates below the plasma membrane; final pathology diagnosis: skeletal muscle with changes compatible with a myopathy characterized by nemaline rods (rod body myopathy); genomic DNA sequencing revealed that subject is heterozygous for variant of unknown significance in the KLHL40 gene (c.1640G>A) predicted to result in the amino acid substitution (p.Arg547His) and expected be deleterious (SIFT, PolyPhen2, Mutation-Taster); data is available for 22 other likely benign/benign variants; family history: father (not in repository) also affected with nemaline myopathy - at 19 years of age, exhibited a similar, but better developed nemaline myopathy with smearing of Z discs and muscle weakness in upper and lower extremities.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25494
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: More than one race
Age年龄:35 YR
Gender性别:Male
Cell Type细胞类型: NEMALINE MYOPATHY - TYPE UNKNOWN
Affected State:Yes
Product:LCL
Gene:KLHL40
Mutations突变:c.1640G>A; p.Arg547His
Ethnicity:Puerto Rican
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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Email：Biovector@163.com
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