AG18371罗斯蒙-汤姆森综合征；即时战略| RECQ 类蛋白 4； RECQL4 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® AG18371 ROTHMUND-THOMSON SYNDROME; RTS | RECQ PROTEIN-LIKE 4; RECQL4 Cell Line
罗斯蒙-汤姆森综合征；即时战略| RECQ 类蛋白 4； RECQL4细胞株
Description描述：Clinically affected; diagnosed with osteosarcoma at age 11 years; died at age 13 years of osteosarcoma; features of small stature; severe poikiloderma; sparse eyebrows and eyelashes; sister with RTS also died of metastatic osteosarcoma; product of a consanguineous mating; mother is AG18372 (LCL)/AG18373 (fibroblast); the donor subject is homozygous for a truncating mutation in the RECQL4 gene: an 11 bp deletion at nucleotide g.2746 (g.2746del11) in intron 8 which results in an intron that is too short to be efficiently spliced. The karyotype is 46,XY with 10% of the cells examined showing random chromosome loss/gain and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product.
Category分类：Fibroblast
ID编号:NTCC®-AG18371
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: Hispanic/Latino
Age年龄:12 YR
Gender性别:Male
Cell Type细胞类型: ROTHMUND-THOMSON SYNDROME; RTS | RECQ PROTEIN-LIKE 4; RECQL4
Affected State:Yes
Product:Fibroblast
Gene:RECQL4
Mutations突变:g.2746del11
Ethnicity:MEXICAN
Family:2233
Relationship:proband
Karyotype:46,XY[16]
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® MEM (Eagle) Alpha Modification with nucleosides 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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Email：Biovector@163.com
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