Name細胞名稱：NTCC? GM05788 SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7 Cell Line
史密斯-萊姆利-奧皮茲綜合征； SLOS | 7-@脫氫膽固醇還原酶； DHCR7細胞株
Description描述：46,XX in leukocytes; failure to thrive, developmental delay, hypotonia, microcephaly, micrognathia, simian creases, and partial syndactyly; negative family history; see GM05789 Lymphoid; donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 413 of the DHCR7 gene (c.413G>T) resulting in the substitution of valine for glycine at codon 138 [Gly138Val (G138V)] and the second allele has a C>T transition at nucleotide 1213 (c.1213C>T) resulting in the substitution of tyrosine for histidine at codon 405 [His405Tyr (H405Y)]
Category分類：Fibroblast
ID編號:NTCC?-GM05788
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:1 YR
Gender性別:Female
Cell Type細胞類型: SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
Affected State:Yes
Product:Fibroblast
Gene:DHCR7
Mutations突變:GLY138VAL HIS405TYR
Ethnicity:
Family:2965
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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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