GM17721 SALLA DISEASE | SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17721 SALLA DISEASE | SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5 B-Lymphocyte Cell Line
萨拉病 |溶质载体家族 17，成员 5； SLC17A5细胞株
Description描述：Clinically affected; no family history; normal newborn period; hypotonia during first months of life; ocular squint at 3 months; ataxia at 6 months; walking with aid at 3 years, later unable to walk; delayed speech, at 5 years only able to say a few words or simple sentences; severe mental retardation; urinary free sialic acid 98 micromole/mmole creatinine (control = 14); donor subject is homozygous for the Finnish founder mutations: a C-to-T transition at nucleotide 115 (115C>T) in exon 2 of the SLC17A5 gene which results in a missense mutation [ARG39CYS (R39C)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17721
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:9 YR
Gender性别:Female
Cell Type细胞类型: SALLA DISEASE | SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5
Affected State:Yes
Product:LCL
Gene:SLC17A5
Mutations突变:ARG39CYS
Ethnicity:FINNISH
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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