Name：NTCC? NA02756 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA02756
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)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; deficient ADA activity in lymphoblasts and mononuclear cells; enzyme phenotypes: 6PGD=A, G6PD=B, Peptidases A,C,and D=1, Acid Aglucosidase=1, Neutral A-glucosidase C= 3-2; normal ADA mRNA level; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene [727G>A (alternately described as 632G>A)] resulting in a substitution of histidine for arginine at codon 211 [Arg211His (R211H)] and a second 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)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: ADA
Disease疾病類型:
Mutations突變: ALA329VAL ARG211HIS
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
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