Name細胞名稱：NTCC? GM09338 TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2 B-Lymphocyte Cell Line
結節性硬化癥2； TSC2 | TSC2 基因； TSC2細胞株
Description描述：Clinically affected; hypomelanotic macules; seizures; angiofibroma; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease; donor subject carries a missense mutation in the GTPase activating protein homology region of the TSC2 gene due to an A-to-C transversion (CAG>CCG) at nucleotide position 4508 (4508A>C) which results in the substitution of proline for glutamine [GLN1503PRO (Q1503P)] at codon 1503 in exon 34
Category分類：B-Lymphocyte
ID編號:NTCC?-GM09338
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:
Age年齡:36 YR
Gender性別:Male
Cell Type細胞類型: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Affected State:Yes
Product:LCL
Gene:TSC2
Mutations突變:GLN1503PRO
Ethnicity:
Family:2149
Relationship:maternal cousin
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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