Name：NTCC? NA01715 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA01715
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: 3 YR
Gender性別: Male
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; failure to thrive; multiple pneumonias and oral/skin moniliasis; long-term hospitalization starting at age 26 months: immunologic studies showed variable but persistent lymphopenia, low numbers of T lymphocytes, relatively increased percentage of B lymphocytes, bone marrow aspirate with few lymphocytes or plasma cells, lymph node biopsy revealed a "hypoplastic node with follicles but largely absent T-dependent areas and sinus histiocytosis", quantitative immunoglobins remained normal; height and weight increased to 25th-50th percentile by age 6 years but subject remained lymphopenic; between ages 11-14 years the absolute lymphocyte count was normal with a normal percentage of T cells; no medical problems at age 20 years (no theapy from age 13-20 years); HLA type A2,30,B7,39; enzyme phenotypes: 6PGD=A, G6PD=A, Peptidases A,C,&D=1, Acid A-glucosidase=1, Neutral A-glucosidase C=3, & GLO-1=2; 46,XY; ADA activity shortly after diagnosis was 1% of normal in erythrocytes and 18% of normal in mixed mononuclear cells; ADA in both cultured lymphoid and fibroblast cell lines established at diagnosis showed deficiency of ADA with <1% of normal ADA activity; a lymphoid cell line established at age 16 years exhibited >50% of normal ADA activity; studies performed on the lymphoid and fibroblast cell lines established at the time of diagnosis found the donor subject to be a compound heterozygote: one allele has a G>A transition at nucleotide 302 in exon 4 of the ADA gene [302G>A] resulting in a substitution of glutamine for arginine at codon 101 [Arg101Gln(R101Q)] and a second allele has a splice-donor-site mutation in IVS1(+1GT>CT) resulting in an unstable mRNA; the B cell line expressing ADA activity (established at age 16 years) contained the missense Arg101Gln mutation but lacked the splice-site mutation; donor subject determined to have somatic mosaicism; same donor as GM02445 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: ARG101GLN IVS1DS, G>C, +1
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