Name細胞名稱：NTCC? GM09587 ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM B-Lymphocyte Cell Line
共濟失調-毛細血管擴張；在|共濟失調-毛細血管擴張癥突變基因；自動提款機細胞株
Description描述：Similarly affected brother; onset at age 3; positive for telangiectasia; wheelchair at age 20; elevated alpha fetoprotein at age 39; no excess respiratory infections; compound heterozygote; the maternal allele carries a 4bp deletion at IVS59+1 which results in skipping of exon 59 leading to the deletion of 50 amino acids beginning at codon 2758 and the paternal allele carries a C>T mutation at nucleotide 9022 in exon 65 resulting in an amino acid change of R>C at codon 3008; in addition, the paternal allele carries a neutral sequence variation (735C>T) resulting in no change of the valine at codon 245
Category分類：B-Lymphocyte
ID編號:NTCC?-GM09587
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:39 YR
Gender性別:Male
Cell Type細胞類型: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Affected State:Yes
Product:LCL
Gene:ATM
Mutations突變:9022C>T IVS59+1del4
Ethnicity:
Family:2177
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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