Name細胞名稱：NTCC? GM03429 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD 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; Canadian Repository #466; negative family history; walked at age 20 1/2 months; talked at 30 months; difficulty walking up stairs and difficulty running noted since age 3; wide-based and waddling gait; Gower's maneuver; depressed reflexes; wasting of shoulder muscles and slight thigh wasting; decreased muscle tone, particularly in the legs; progressive proximal muscle weakness; relatively normal strength in distal muscles; calf hypertrophy; scoliosis; lumbar lordosis; grade 2/6 systolic ejection heart murmur; elevated CPK's ranging from 5,150 to 17,090; EMG picture is consistent with DMD; EKG at age 6 suggested right ventricular enlargement or combined ventricular enlargement; muscle biopsy showed typical changes of DMD; PCR analysis of dystrophin gene shows deletion of exons 45 to 50; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-50
Category分類：Fibroblast
ID編號:NTCC?-GM03429
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:6 YR
Gender性別:Male
Cell Type細胞類型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | DYSTROPHIN; DMD
Affected State:Yes
Product:Fibroblast
Gene:DMD
Mutations突變:EX45-50DEL
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY[19]
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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