NTCC® NA04981 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04981

Name：NTCC® NA04981 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04981
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 6 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, BECKER TYPE; BMD | DYSTROPHIN; DMD
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: DMD
Disease疾病类型:
Mutations突变: EX45-53DEL
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net