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GM09912 LCL from B-Lymphocyte

Description:

HEMOCHROMATOSIS, NEONATAL

Affected:

No

Sex:

Male

Age:

29 YR (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
Pharmacogenetics
Class Disorders of Metal Metabolism
Alternate IDs GM17095 [HEMOCHROMATOSIS, NEONATAL]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity PORTUGUESE
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; 2 children have neonatal hemochromatosis; HLA type: A2, B7/A1,B35;DR3,DRw8; normal levels of serum iron, iron binding capacity, transferrin and ferritin levels but persistently abnormal liver function tests

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
HLA TYPING HLA type is A2,B7/A1,B35 (DR3,DRw8)
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 1 124030.0001; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation IVSDS3, G>A, +1; This allelic variant is also known as CYP2D6*4 or CYP2D6(B). In 20 individuals with poor metabolism of debrisoquine (608902), Gough et al. (Nature 347: 773-776, 1990) identified a G-to-A transition at the first nucleotide of exon 4 in the CYP2D6 gene, resulting in a shift of the splice site and introduction of a premature termination codon. The mutant protein had no residual activity. Gough et al. (1990) presented preliminary data suggesting a reduction in the proportion of poor metabolizers among patients with lung or bladder cancer.
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 2 124030.0002; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation DEL; This allelic variant is also known as CYP2D6*5 and CYP2D6(D). In 1 of 42 poor metabolizer individuals (608902), Gough et al. (Nature 347:773-776, 1990) found homozygous deletion of the CYP2D locus. In a poor metabolizer, Gaedigk et al. (Am J Hum Genet 48:943-950, 1991) identified a homozygous 11.5-kb deletion associated with deletion of the entire CYP2D6 gene and total absence of P4502D6 protein in the liver.

Phenotypic Data

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Remarks Clinically unaffected; 2 children have neonatal hemochromatosis; HLA type: A2, B7/A1,B35;DR3,DRw8; normal levels of serum iron, iron binding capacity, transferrin and ferritin levels but persistently abnormal liver function tests

Publications

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Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022
PubMed ID: 37020281
 
Driscoll, Neonatal hemochromatosis: Evidence for autosomal recessive transmission. Am J Hum Genet43 Sup:A232 (1988):74 1988
PubMed ID: 37020281

External Links

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dbSNP dbSNP ID: 11315
NCBI GTR 231100 HEMOCHROMATOSIS, NEONATAL
OMIM 231100 HEMOCHROMATOSIS, NEONATAL
Omim Description 3-@BETA-HYDROXY-DELTA-5 STEROID DEHYDROGENASE/ISOMERASE, DEFICIENCYOF, INCLUDED
  GIANT CELL HEPATITIS, NEONATALIDIOPATHIC NEONATAL HEMOCHROMATOSIS, INCLUDED
  HEMOCHROMATOSIS, NEONATAL, INCLUDED

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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