GM06332 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | TTDN1 GENE; TTDN1 (C7ORF11) Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM06332 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | TTDN1 GENE; TTDN1 (C7ORF11) Cell Line
毛硫营养不良症，非光敏性 1； TTDN1 | TTDN1基因； TTDN1 (C7ORF11)细胞株
Description描述：Moroccan; consanguineous parents; growth and mental deficiency (IQ 25-40); brittle hair; microcephaly; areas of alopecia; hypotonia; 2 similarly affected siblings; normal urinary organic acids and plasma biotinidase activity; donor subject is homozygous for a 2 bp deletion at nucleotide 187 (187_188delGG) in exon 1 of the C7ORF11 (TTDN1) gene resulting in a 57 amino acid truncated protein
Category分类：Fibroblast
ID编号:NTCC®-GM06332
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:4 YR
Gender性别:Female
Cell Type细胞类型: TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | TTDN1 GENE; TTDN1 (C7ORF11)
Affected State:Yes
Product:Fibroblast
Gene:TTDN1
Mutations突变:2-BP DEL,187GG
Ethnicity:MOROCCAN
Family:954
Relationship:sister
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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