Name：NTCC? NA01712 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA01712
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: 21 YR
Gender性別: Male
Description描述: COCKAYNE SYNDROME, TYPE B; CSB | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Remarks: Clinically affected; subject alternate ID is CS2BE or CS5HO; fibroblasts are assigned to complementation group B; UV irradiation sensitive; pigmentary retinopathy symptoms; gait defect; normal DNA ligase I and II activity; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200); the second allele has a deletion of exon 10 (del665_723); HLA type Aw32,A10,Bw15,B14,(A3); see GM01098 Fibroblast;
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: ERCC6
Disease疾病類型:
Mutations突變: 3614delT DEL EX10
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