Name：NTCC? NA08207 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA08207
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 19 YR
Gender性別: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
Remarks: XP6BE; SV40 transformed; positive family history; neurological complications; passage 3 at CCR; karyotype is female, 78% near diploid, 22% near tetraploid, and all cells show chromosome aberrations; donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp [Arg683Trp (R683W)] and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deltion of amino acids 36 to 61 (DEL 36_61).
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: ERCC2
Disease疾病類型:
Mutations突變: 78 bp deletion (106-183) ARG683TRP
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net