NTCC® NA07692 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07692

Name：NTCC® NA07692 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07692
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:
Gender性别: Female
Description描述: MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850 | DYSTROPHIN; DMD
Remarks: Proven carrier of Chronic Granulomatous Disease by the quantitative NBT test; normal CPK; 46,XX; a mat uncle has questionable CGD; another maternal cousin related through a male has DMD (apparently incidental); PCR analysis of dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17, exon 19 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 1-18 including alternate exon 1 (del 5 prime end-18); affected son is GM07691.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DMD
Disease疾病类型:
Mutations突变: EX1-18DEL (DEL 5 PRIME END-18)
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