Name：NTCC? NA02250 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA02250
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: 17 YR
Gender性別: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Remarks: XP12BE; multiple skin cancers; acute sun sensitivity; progressive neurological degeneration; <2% of normal UV induced unscheduled DNA synthesis in fibroblasts; same patient as ATCC CRL 1223; see GM04429 (SV40 transformed fibroblast) and GM05509 (fibroblast); the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: XPA
Disease疾病類型:
Mutations突變: 555G>C G>T transversion in intron 3
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