Name：NTCC? NA03379 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA03379
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: 86 YR
Gender性別: Female
Description描述: XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | POLYMERASE, DNA, ETA; POLH
Remarks: XP5MA; "pigmented xerodermoid"; XP variant; apparently normal excision repair and a hypersensitive response of semiconservative DNA replication to UV damage; 3 similarly affected sibs; donor subject is homozygous for a 104 bp deletion at nucleotides 661_764 of the POLH gene (661_764del) resulting in a frameshift at Lys220 [Lys220fs]
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: POLH
Disease疾病類型:
Mutations突變: 104 BP DEL, NT661
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