Name細(xì)胞名稱：NTCC? GM06146 TUBEROUS SCLEROSIS 1; TSC1 | TSC1 GENE; TSC1 B-Lymphocyte Cell Line
結(jié)節(jié)性硬化癥1； TSC1 | TSC1 基因； TSC1細(xì)胞株
Description描述：Same subject as GM06149 (fibroblast) and GM28959 (iPSC); clinically affected; seizures; hypopigmented macules on right shoulder, right thigh, left chest, right knee, lower back and right upper arm; caf錕?au-lait spot on right wrist; confetti hypopigmentation over back and legs; myopia; at age 17 there were no shagreen patches, ungual fibromas or adenoma sebaceum; calcifications in brain; donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene [2249G>A] resulting in a substitution of a termination signal for tryptophan at codon 750 [Trp750Ter (W750X)]; polymorphisms in the TSC1 gene include 2829C>T; polymorphisms in the TSC2 gene include 479-3C>T, 5161-10A>C, 5202T>C, 5259+72C>T; affected father is GM06148 (Fibroblast) and affected brother is GM06150 (Fibroblast).
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM06146
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:17 YR
Gender性別:Male
Cell Type細(xì)胞類型: TUBEROUS SCLEROSIS 1; TSC1 | TSC1 GENE; TSC1
Affected State:Yes
Product:LCL
Gene:TSC1
Mutations突變:TRP750TER
Ethnicity:
Family:920
Relationship:proband
Karyotype:
Tissue Type組織來(lái)源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 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(xiàn):

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