Name細胞名稱：NTCC? GM05082 MUSCULAR DYSTROPHY, BECKER TYPE; BMD B-Lymphocyte Cell Line
貝克爾型肌營養不良癥；骨密度細胞株
Description描述：Clinically affected with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; same donor as GM05081 Fibroblast; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations
Category分類：B-Lymphocyte
ID編號:NTCC?-GM05082
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: White
Age年齡:10 YR
Gender性別:Male
Cell Type細胞類型: MUSCULAR DYSTROPHY, BECKER TYPE; BMD
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:2396
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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