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GM14732 LCL from B-Lymphocyte

Description:

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Affected:

No Data

Sex:

Female

Age:

31 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
Class Disorders of Steroid Metabolism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Obligate heterozygote; mother of affected son, GM14734; donor subject has one allele with a full deletion of the CYP21A2 gene

Characterizations

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Gene CYP21A2
Chromosomal Location 6p21.33
Allelic Variant 1 ; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
Identified Mutation DEL

Phenotypic Data

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Remarks Obligate heterozygote; mother of affected son, GM14734; donor subject has one allele with a full deletion of the CYP21A2 gene

Publications

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Greene CN, Cordovado SK, Turner DP, Keong LM, Shulman D, Mueller PW, Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines Molecular genetics and metabolism reports1:312-323 2014
PubMed ID: 27896104

External Links

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dbSNP dbSNP ID: 12180
Gene Cards CYP21
Gene Ontology GO:0004497 monooxygenase activity
GO:0004509 steroid 21-monooxygenase activity
GO:0005496 steroid binding
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0006118 electron transport
GO:0006700 C21-steroid hormone biosynthesis
GO:0016020 membrane
GO:0019825 oxygen binding
NCBI Gene Gene ID:1589
NCBI GTR 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
OMIM 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Omim Description 21-@HYDROXYLASE B, INCLUDED; CYP21B, INCLUDED
  21-@HYDROXYLASE DEFICIENCY
  ADRENAL HYPERPLASIA III
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
  CA21H
  CONGENITAL ADRENAL HYPERPLASIA 1; CAH1CYTOCHROME P450, SUBFAMILY XXI, INCLUDED; CYP21, INCLUDED
  CYP21 DEFICIENCY
  CYP21A, INCLUDED
  STEROID CYTOCHROME P450 21-HYDROXYLASE PSEUDOGENE, INCLUDED; CYP21P,INCLUDED
  STEROID CYTOCHROME P450 21-HYDROXYLASE, INCLUDED; P450C21, 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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