GM23324贝瑟勒姆肌病 | VI 型胶原蛋白，ALPHA-3； COL6A3 皮肤，未特指的成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23324 BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-3; COL6A3 Skin, Unspecified Cell Line
贝瑟勒姆肌病 | VI 型胶原蛋白，ALPHA-3；科尔6A3细胞株
Description描述：Clinically affected; positive family history: paternal grandmother, father, paternal aunt and two first cousins also affected; met all motor function milestones; can hold head up and sit unsupported for more than one hour; can walk unassisted both indoors and out; can climb stairs and run; donor subject is heterozygous for an A>G transition at nucleotide 1688 in exon 5 of the COL6A3 gene resulting in the substitution of glycine for aspartic acid at codon 563 [Asp563Gly (D563G)]; Affected father is GM24343.
Category分类：Fibroblast
ID编号:NTCC®-GM23324
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:18 YR
Gender性别:Female
Cell Type细胞类型: BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-3; COL6A3
Affected State:Yes
Product:Fibroblast
Gene:COL6A3
Mutations突变:ASP563GLY
Ethnicity:GERMAN/FINNISH
Family:3014
Relationship:daughter
Karyotype:
Tissue Type组织来源:Skin
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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