Name：NTCC? NA09217 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09217
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: 7 YR
Gender性別: Female
Description描述: CRIGLER-NAJJAR SYNDROME | UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
Remarks: First cousin of GM09218; persistent unconjugated hyperbilirubinemia; no evidence of neurologic or cognitive impairment; parents are third cousins; the donor subject is homozygous for a C-to-T transition (TCC>TTC) in exon 4 of the UGT1A1 gene which results in a substitution of phenylalanine for serine at codon 376 [SER376PHE (S376F)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: UGT1A1
Disease疾病類型:
Mutations突變: SER376PHE
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