GM03901 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03901 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Skin, Unspecified Cell Line
家族性腺瘤性息肉病 1； FAP1细胞株
Description描述：Clinically affected with Gardner syndrome; fibroblast cells derived from skin biopsy; karyotype at p5 shows 11% of cells are polyploid - 46,XX,inv(9)(pter>p11:: q13>p11::q13>qter); balanced; subject had 2 intra-abdominal mesentery desmoids and recurrent low grade fibrosarcomas; DNA sequencing revealed that the donor subject has a C>T change at nucleotide 646 in exon 6 of the APC gene (646C>T) resulting in the conversion of an arginine at codon 216 to a stop codon [Arg216Ter (R216X)]; donor subject also has a polymorphism at exon 15: a C>T transition at nucleotide 2608 (2608C>T), which results in a proline 870 to serine substitution [Pro870Ser (P870S)]; similarly affected father (deceased - not in repository; fibromas, lipomas, metastatic colon cancer); same subject as GM03900 (tumor);
Category分类：Fibroblast
ID编号:NTCC®-GM03901
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: Black/African American
Age年龄:15 YR
Gender性别:Female
Cell Type细胞类型: FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Affected State:Yes
Product:Fibroblast
Gene:APC
Mutations突变:ARG216TER
Ethnicity:
Family:582
Relationship:proband
Karyotype:46,XX,inv(9)(pter>p11::q13>p11::q13> qter)
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
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