GM03029 ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | ADENOSINE DEAMINASE; ADA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03029 ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | ADENOSINE DEAMINASE; ADA Cell Line
腺苷脱氨酶缺乏症但不伴有免疫缺陷|腺苷脱氨酶； ADA细胞株
Description描述：Phenotypically normal; !Kung South African; marked deficiency of red cell adenosine deaminase; 2-3% enzyme activity in RBCs, 10-12% enzyme activity in leukocytes, and 10-30% enzyme activity in cultured fibroblasts; ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency; enzyme has ADA 1 electrophoretic mobility; normal humoral and cellular immunity; enzyme phenotypes: 6PGD=A, ADA=1, Neutral A-glucosidase C=2; contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA; donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene [698C>T (alternately described as 793C>T)] resulting in a substitution of isoleucine for threonine at codon 233 [Thr233Ile(T233I)]; same donor as GM03043 lymphocyte.
Category分类：Fibroblast
ID编号:NTCC®-GM03029
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: Black/African American
Age年龄:16 YR
Gender性别:Male
Cell Type细胞类型: ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | ADENOSINE DEAMINASE; ADA
Affected State:No
Product:Fibroblast
Gene:ADA
Mutations突变:THR233ILE
Ethnicity:!KUNG
Family:634
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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