GM21654花叶杂色非整倍体综合征 2； MVA2 |中心体蛋白，57-KD； CEP57 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21654 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 | CENTROSOMAL PROTEIN, 57-KD; CEP57 B-Lymphocyte Cell Line
花叶杂色非整倍体综合征 2； MVA2 |中心体蛋白，57-KD； CEP57细胞株
Description描述：Laringeal stridor without respiratory distress was noted at birth; laryngoscopy revealed a laryngeal cyst; hypothyroidism diagnosed at age 6 months; dolichocephaly; prominent occiput; frontal bossing; triangular face; inverted epicanthic folds; small nose; micrognathia; low-set ears; cafe au lait spot of 8 cm diameter in left pectoral region with irregular borders; clinodactyly of hands; cranial CAT scan, eyes, abdomen and genitalia are normal; no evidence of malignancy; affected sister is GM21655; molecular analysis showed no BUB1B mutation
Category分类：B-Lymphocyte
ID编号:NTCC®-GM21654
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:
Age年龄:4 YR
Gender性别:Male
Cell Type细胞类型: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 | CENTROSOMAL PROTEIN, 57-KD; CEP57
Affected State:Yes
Product:LCL
Gene:CEP57
Mutations突变:c.520_521del (p.Glu174fs) c.915_925dup (p.Leu309fs)
Ethnicity:MEXICAN
Family:2680
Relationship:proband
Karyotype:45-50,XY,+X[2],-Y[1],-2[1],-5[1],+5[2],+6[1],+7[1],+9[1],+13[1],+14[2],+15[2],+21[1],+22[1],+mar[1][cp50]
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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