GM03618 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | POLYMERASE, DNA, ETA; POLH Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03618 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | POLYMERASE, DNA, ETA; POLH Cell Line
色素性干皮病，变异型； XPV |聚合酶、DNA、ETA；波尔赫细胞株
Description描述：XP6DU; variant; clinically affected; donor subject is a compound heterozygote: one allele has a deletion of a G at nucleotide 207 of the POLH gene (207delG) resulting in a frameshift at K69 [Lys69fs]; the second allele has a 3 bp in frame deletion at nucleotides 222_224 of the POLH gene (222_224del) resulting in a deletion of Leu at codon 75 [delLeu75]
Category分类：Fibroblast
ID编号:NTCC®-GM03618
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:
Gender性别:Female
Cell Type细胞类型: XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | POLYMERASE, DNA, ETA; POLH
Affected State:Yes
Product:Fibroblast
Gene:POLH
Mutations突变:1 BP DEL, 207G 3 BP DEL, NT222
Ethnicity:
Family:
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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