Name：NTCC? NA11411 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11411
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 4 MO
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; Amish; onset at age 3 days with respiratory distress, pneumonia, and lymphopenia; remained profoundly lymphopenic during first 6 weeks of life with few mature T or B cells and with 23% mononuclear cells bearing NK markers; at one month of age both IgA and IgM were non-detectable and there was absence of proliferative response of lymphocytes to the mitogens PHA, Con A, or PWM; chondro-osseous dysplasia; ADA activity in erythrocytes was less than 0.2% of normal; ADA activity in lymphoblast culture was less than 0.1% of normal; erythrocyte deoxy ATP was markedly elevated; donor subject is homozygous for a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216 [Gly216Arg (G216R)]; parents are GM11412 and GM11413.
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: ADA
Disease疾病類型:
Mutations突變: GLY216ARG
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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