Name細胞名稱：NTCC? GM05509 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA Cell Line
色素性干皮病，補充組 A； XPA | XPA，DNA損傷識別和修復因子； XPA細胞株
Description描述：Multiple skin cancers; acute sun sensitivity; nervous system involvement with progressive neurological degeneration; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice; XP12BE; < 2% of normal UV induced unscheduled DNA synthesis; see GM02250 (lymphoblast) and GM04429 (SV40 transformed fibroblast).
Category分類：Fibroblast
ID編號:NTCC?-GM05509
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:17 YR
Gender性別:Female
Cell Type細胞類型: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
Affected State:Yes
Product:Fibroblast
Gene:XPA
Mutations突變:555G>C G>T transversion in intron 3
Ethnicity:
Family:484
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養(yǎng)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傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

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