Name：NTCC? NA02825 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA02825
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 MO
Gender性別: Female
Description描述: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADENOSINE DEAMINASE; ADA
Remarks: Clinically affected; lymphoblastoid cell line contains less than 5% of normal ADA activity and immunoreactive protein; absent IgM and IgA; weak MLC response; absent T cells; no detectable ADA activity in erythrocytes; normal ADA mRNA level but cells contain mRNAs of abnormal size; normal ADA mRNAs and ADA mRNAs missing exon 4 are present in approximately equal abundance; donor subject is a compund heterozygote: one allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene [1081C>T] resulting in a substitution of valine for alanine at codon 329 [Ala329Val(A329V)] and a second allele has an A>G transition in the 3-prime splice site of intron 3 of the ADA gene resulting in a deletion of exon 4 from mature RNA; same donor as GM02824 fibroblast.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: ADA
Disease疾病類型:
Mutations突變: ALA329VAL IVS3AS, A>G, -2, EX4DEL
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