Name：NTCC? NA13817 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13817
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: 4 YR
Gender性別: Male
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Remarks: XP22BE; Korean; skin lesions including squamous cell carcinoma and melanomas; mild developmental & significant speech delays; growth below the fifth percentile; hyperactivity with delayed motor development and absent speech; persistent low levels of glycine in the blood; increased levels of valine, isoleucine, leucine, methionine, and tyrosine in the blood and urine; the donor subject is homozygous for a T>G transversion in the splice donor site of exon 9 in the XPC gene (IVS9+2T>G) which results in three different mRNA isoforms: isoform I has a loss of exon 9, isoform II has an insertion of exons 9b and 9a, and isoform III has a deletion of exon 9 and an insertion of exon 9a.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: XPC
Disease疾病類型:
Mutations突變: IVS9DS, T>G, +2
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