GM11296 ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11296 ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR B-Lymphocyte Cell Line
眼皮肤白化病，1A 型； OCA1A |酪氨酸酶； TYR细胞株
Description描述：Type Ia; absent pigment of skin, hair, & eyes; very low vision; nystagmus; strabismus; no family history of OCA; undetectable tyrosinase activity in scalp hairbulbs; donor subject is a compound heterozygote: one allele has a CCT (Pro)>CTT (Leu) change at codon 81 of the TYR gene [Pro81Leu (P81L)]; the other allele has a CGG (Arg)>TGG (Trp) change at codon 217 [Arg217Trp (R217W)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM11296
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:45 YR
Gender性别:Male
Cell Type细胞类型: ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR
Affected State:Yes
Product:LCL
Gene:TYR
Mutations突变:ARG217TRP PRO81LEU
Ethnicity:SCOTTISH/IRISH
Family:
Relationship:proband
Karyotype:
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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