GM10688致死性发育不良； TD |倒转染色体 |成纤维细胞生长因子受体 3； FGFR3 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM10688 THANATOPHORIC DYSPLASIA; TD | INVERTED CHROMOSOME | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 Cell Line
致死性发育不良； TD |倒转染色体 |成纤维细胞生长因子受体 3； FGFR3细胞株
Description描述：Questionable Kleeblattschaedel; growth deficiency; short limbs; sausage-like fingers; bowed long bones; spur-like metaphyses; narrow short ribs; short flattened vertebrae with wide intervertebral disc space; expired at age 1 day; donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 [Arg248Cys (R248C)]
Category分类：Fibroblast
ID编号:NTCC®-GM10688
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:22 FW
Gender性别:Male
Cell Type细胞类型: THANATOPHORIC DYSPLASIA; TD | INVERTED CHROMOSOME | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
Affected State:Yes
Product:Fibroblast
Gene:FGFR3
Mutations突变:ARG248CYS
Ethnicity:
Family:1248
Relationship:proband
Karyotype:46,XY,inv(9)(pter>p11::q13>p11::q13>qter)
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
NTCC典型培养物保藏中心
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Email：Biovector@163.com
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