Name細胞名稱：NTCC? GM00667 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | ARH GENE; ARH Cell Line
高膽固醇血癥，常染色體隱性遺傳； ARH | ARH基因；急性肝炎細胞株
Description描述：Lebanese; large xanthomas; product of consanguineous mating; fasting plasma total cholesterol of 580 milligram per microliter; LDLR activity in fibroblasts was 60-70% of normal controls; three affected sibs: GM00694, GM00696, GM00697; donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene, resulting in a nonsense mutation in codon 136, a glutamine-to-ter substitution [Gln136TER (Q136X)].
Category分類：Fibroblast
ID編號:NTCC?-GM00667
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:12 YR
Gender性別:Male
Cell Type細胞類型: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | ARH GENE; ARH
Affected State:Yes
Product:Fibroblast
Gene:ARH
Mutations突變:GLN136TER
Ethnicity:LEBANESE
Family:263
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: 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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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