GM04981 MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DYSTROPHIN; DMD Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04981 MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DYSTROPHIN; DMD Cell Line
贝克尔型肌营养不良症；骨密度|肌营养不良蛋白； DMD细胞株
Description描述：Clinically affected; Becker type; positive Gower's sign; significant lordosis; pseudohypertrophy of calves; muscle weakness; atrophy of shoulder girdle musculature; muscle biopsy diagnosed muscular dystrophy with the comment "although the number of actively degenerating fibers in this sample is small, neither the character nor the degree of change enables one to distinguish Becker from Duchenne dystrophy"; elevated CPK of 2,840; PCR analysis of dystrophin gene shows deletion starting at (and including) exon 45 through at least exon 52; exon 60 is not deleted; 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 45-53; 2 affected maternal uncles; for induced pluripotent stem cell line, see GM23262.
Category分类：Fibroblast
ID编号:NTCC®-GM04981
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: White
Age年龄:6 YR
Gender性别:Male
Cell Type细胞类型: MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DYSTROPHIN; DMD
Affected State:Yes
Product:Fibroblast
Gene:DMD
Mutations突变:EX45-53DEL
Ethnicity:
Family:2975
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: 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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