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GM00638 Fibroblast from Skin, Unspecified

Description:

GALACTOSEMIA

Affected:

Yes

Sex:

Male

Age:

3 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Simian Virus 40
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks SV40 transformed GM00054; Gal-1-P uridyl transferase absent post-crisis, G6PD type B; T-antigen positive; see GM01907 Fibroblast and GM02795A Lymphoid; hypodiploid, unstable karyotype with random rearrangements and 3 marker chromosomes

Characterizations

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Passage Frozen 42
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 

Phenotypic Data

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Remarks SV40 transformed GM00054; Gal-1-P uridyl transferase absent post-crisis, G6PD type B; T-antigen positive; see GM01907 Fibroblast and GM02795A Lymphoid; hypodiploid, unstable karyotype with random rearrangements and 3 marker chromosomes

Publications

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Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ, GALT deficiency causes UDP-hexose deficit in human galactosemic cells Glycobiology13:285-94 2003
PubMed ID: 12626383
 
Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999
PubMed ID: 10480367
 
Reichardt JK, Molecular analysis of 11 galactosemia patients. Nucleic Acids Res19:7049-52 1991
PubMed ID: 1766867
 
Babich MA, Day RS 3d, Synergistic killing of virus-transformed human cells with interferon and N-methyl-N'-nitro-N-nitrosoguanidine. Carcinogenesis10:265-8 1989
PubMed ID: 2463881
 
Baldwin GC, Gasson JC, Kaufman SE, Quan SG, Williams RE, Avalos BR, Gazdar AF, Golde DW, DiPersio JF, Nonhematopoietic tumor cells express functional GM-CSF receptors. Blood73:1033-7 1989
PubMed ID: 2537665
 
Choi KH, Tevethia SS, Shin S, Tumor formation by SV40-transformed human cells in nude mice: the role of SV40 T antigens. Cytogenet Cell Genet36:633-40 1983
PubMed ID: 6319085
 
Day RS 3d, Ziolkowski CH, Scudiero DA, Meyer SA, Lubiniecki AS, Girardi AJ, Galloway SM, Bynum GD, Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains. Nature288:724-7 1980
PubMed ID: 6256643
 
Farber RA, Davidson RL, Maintenance of replication patterns in human-mouse hybrids retaining only one human chromosome. Somatic Cell Genet5:519-28 1979
PubMed ID: 227124
 
Greene AE, Manduka M, Coriell LL, SV40 virus transformation of genetic mutant cell cultures. Monogr Hum Genet9:248-52 1978
PubMed ID: 215903
 
Croce CM, Assignment of the integration site for simian virus 40 to chromosome 17 in GM54VA, a human cell line transformed by simian virus 40. Proc Natl Acad Sci U S A74:315-8 1977
PubMed ID: 189310
 
Tan YH, Berthold W, A mechanism for the induction and regulation of human fibroblastoid interferon genetic expression. J Gen Virol34:401-11 1977
PubMed ID: 856944
 
Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976
PubMed ID: 182912

External Links

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dbSNP dbSNP ID: 19830
NCBI GTR 230400 GALACTOSEMIA I; GALAC1
OMIM 230400 GALACTOSEMIA I; GALAC1
Omim Description GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
  GALACTOSEMIA
  GALT DEFICIENCYGALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE; GALT, INCLUDED

Culture Protocols

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Passage Frozen 42
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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