GM06102 TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM06102 TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2 Cell Line
结节性硬化症2； TSC2 | TSC2 基因； TSC2细胞株
Description描述：Clinically affected; diagnosed at age 2; mental retardation with IQ of 66; adenoma sebaceum over the nose and cheeks in a butterfly distribution; seizures that began about 6 months of age; numerous, variable sized areas of depigmentation over the legs, arms and back; shagreen patch in midline of upper back; forehead plaque; abnormal EEG at age 7, which showed right frontotemporal and left occipital focal abnormalities; donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 [Arg1743Gln (R1743Q)]; same donor as GM06101 lymphocyte; see GM25318 for iPSC derived from this fibroblast.
Category分类：Fibroblast
ID编号:NTCC®-GM06102
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: White
Age年龄:26 YR
Gender性别:Female
Cell Type细胞类型: TUBEROUS SCLEROSIS 2; TSC2 | TSC2 GENE; TSC2
Affected State:Yes
Product:Fibroblast
Gene:TSC2
Mutations突变:ARG1743GLN
Ethnicity:
Family:2501
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
NTCC典型培养物保藏中心
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