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GM24519 LCL from B-Lymphocyte

Description:

ADRENAL HYPOPLASIA, CONGENITAL; AHC

Affected:

Yes

Sex:

Male

Age:

17 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
Biopsy Source Blood
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Not Reported
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected with infantile type; missense mutation in the DAX1 gene: A>G at 1273(6248) R425G; positive family history: affected brother is GM24520 and carrier sister is GM24521.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NR0B1
Chromosomal Location Xp21.2
Allelic Variant 1 ;
Identified Mutation 1273(6248)A>G; R425G

Phenotypic Data

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Remarks Clinically affected with infantile type; missense mutation in the DAX1 gene: A>G at 1273(6248) R425G; positive family history: affected brother is GM24520 and carrier sister is GM24521.

Publications

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Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER., DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet.62(4):855-64 1998
PubMed ID: 9529340

External Links

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Gene Cards DAX1
NCBI GTR 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
OMIM 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
Omim Description ADDISON DISEASE, X-LINKED; AHX
  ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM
  ADRENAL HYPOPLASIA, CONGENITAL; AHC
  AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED
  AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED
  DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED
  DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED

Culture Protocols

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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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