GM05004 HARTNUP DISORDER | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM05004 HARTNUP DISORDER | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19 Cell Line
哈特纳普症 |溶质载体家族 6（神经递质转运蛋白），成员 19； SLC6A19细胞株
Description描述：Mental retardation and typical aminoaciduria; similarly affected brother; defective intestinal transport of tryptophan and phenylalanine; donor subject is homozygous for a G>A transition at nucleotide 517 in exon 4 of the SLC6A19 gene (517G>A)resulting in the substitution of asparagine for aspartic acid at codon 173 [Asp173Asn (D173N)]
Category分类：Fibroblast
ID编号:NTCC®-GM05004
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:15 YR
Gender性别:Male
Cell Type细胞类型: HARTNUP DISORDER | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19
Affected State:Yes
Product:Fibroblast
Gene:SLC6A19
Mutations突变:ASP173ASN
Ethnicity:
Family:814
Relationship:brother
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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