Name：NTCC? NA07692 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA07692
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡:
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: DMD
Disease疾病類型:
Mutations突變: EX1-18DEL (DEL 5 PRIME END-18)
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
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
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net