GM14818 CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM14818 CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1 Cell Line
唇裂/腭裂 - 外胚层发育不良综合征； CLPED1 |脊髓灰质炎病毒受体样1； PVRL1细胞株
Description描述：Sparse, short brittle hair; hypodontia and anodontia; scanty eyebrows and lower lashes; triangular facies; anteverted pinnae; cleft lip and soft palate; abnormal scalp; hyperkeratosis; cutaneous syndactyly of hands; see GM14817 Lymphoblast; donor subject is homozygous for a G>A transition in exon 3 of the PVRL1 gene (TGG>TAG) resulting in the substitution of a termination signal for tryptophan at codon 185 [Trp185Ter (W185X)] and truncation of the MECTIN-1 protein
Category分类：Fibroblast
ID编号:NTCC®-GM14818
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:24 YR
Gender性别:Male
Cell Type细胞类型: CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1
Affected State:Yes
Product:Fibroblast
Gene:PVRL1
Mutations突变:TRP185TER
Ethnicity:HISPANIC
Family:1795
Relationship:proband
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
NTCC典型培养物保藏中心
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