Name細胞名稱：NTCC? GM04100 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD B-Lymphocyte Cell Line
杜興型肌營養不良癥； DMD |肌營養不良蛋白； DMD細胞株
Description描述：Clinically affected with Duchenne muscular dystrophy; diagnosed at age 6; calf hypertrophy; progressive muscle weakness; began walking at age one but weakness noticed by 2-3 years of age; by age 6 there was lumbar lordosis, waddling gait, shoulder girdle weakness, positive Gower's maneuver, active and symmetric deep tendon reflexes; by age 9 there was proximal muscle weakness that showed marked deterioration since previous evaluations; by age 10 there was toe walking, decreased deep tendon reflexes, proximal weakness of shoulder and hip girdles, atrophy around shoulder girdle muscles with winging of the scapula; onset of speech was delayed, cognitive evaluation revealed learning disability in the areas of language and reading, non-reader at age 10; 3 maternal uncles died from progressive weakness between ages 17-23; son of GM04099; CPK over 11,000; muscle biopsy confirmed Duchenne muscular dystrophy; electromyogram showed myopathy; donor subject has a deletion of exons 49-52 in the dystrophin gene as determined by multiplex PCR
Category分類：B-Lymphocyte
ID編號:NTCC?-GM04100
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: Other
Age年齡:10 YR
Gender性別:Male
Cell Type細胞類型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Affected State:Yes
Product:LCL
Gene:DMD
Mutations突變:EX49-52DEL
Ethnicity:
Family:660
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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