Name細胞名稱：NTCC? GM05835 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | TRANSLOCATED CHROMOSOME Cell Line
杜興型肌營養不良癥； DMD |易位染色體細胞株
Description描述：Clinically affected female; de novo X/autosome translocation; walked at 11 months; initial symptoms started about age 4 and included calf hypertrophy, stumbling, and falling; atrophy of quadriceps muscles; Gower's maneuver; moderate weakness of anterior tibials, quadriceps, biceps, triceps, and deltoid muscles (at age 6); muscle strength in upper extremities 3+ to 4 and 2- in lower extremities (at age 9); absent deep tendon reflexes; short stature; tight heelcords; waddling gait; mild lumbar lordosis; elevated CPK of 8,300; EMG showed polyphasic units of small amplitude and short duration; muscle biopsy showed variability in fiber diameter, with degenerating and regenerating fibers, basophilic sarcoplasm, centrally located nuclei, and increased connective tissue; normal X is late replicating; PCR analysis of dystrophin gene shows no deletion or duplication; clinically normal parents and 3 brothers.
Category分類：Fibroblast
ID編號:NTCC?-GM05835
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:Female
Cell Type細胞類型: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | TRANSLOCATED CHROMOSOME
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突變:
Ethnicity:CHINESE/HAWAIIAN/CAUCASIAN
Family:
Relationship:proband
Karyotype:46,X,t(X;5)(Xqter>Xp21.2::5q35.3>5qter; 5pter>5q35.3::Xp21.2>Xpter)
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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