GM14734
LCL from B-Lymphocyte
Description:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 1 |
613815.0011; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE |
| Identified Mutation |
30-KB DEL; In 13 patients with congenital adrenal hyperplasia, White et al. (Proc Nat Acad Sci 85:4436-4440, 1988) identified a deletion of approximately 30 kb, leaving behind the C4A gene (encoding the fourth component of complement; 120820) and a single CYP21P-like gene. The deletion prevents the synthesis of the protein and destroys all enzymatic activity. This mutation is very common and is found in 29% of all the salt-wasting cases. |
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| Gene |
CYP21A2 |
| Chromosomal Location |
6p21.33 |
| Allelic Variant 2 |
; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE |
| Identified Mutation |
DEL |
| Remarks |
Clinically affected; requires hormone replacement therapy for salt-wasting variety of CAH; donor subject is a compound heterozygote: one allele has a 30 kb deletion of the CYP21A2 gene; a second allele has a deletion of the entire gene |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
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| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
| dbSNP |
dbSNP ID: 12182 |
| Gene Cards |
CYP21 |
| Gene Ontology |
GO:0004497 monooxygenase activity |
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GO:0004509 steroid 21-monooxygenase activity |
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GO:0005496 steroid binding |
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GO:0005783 endoplasmic reticulum |
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GO:0005792 microsome |
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GO:0006118 electron transport |
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GO:0006700 C21-steroid hormone biosynthesis |
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GO:0016020 membrane |
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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 |
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21-@HYDROXYLASE DEFICIENCY |
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ADRENAL HYPERPLASIA III |
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
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CA21H |
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CONGENITAL ADRENAL HYPERPLASIA 1; CAH1CYTOCHROME P450, SUBFAMILY XXI, INCLUDED; CYP21, INCLUDED |
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CYP21 DEFICIENCY |
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CYP21A, INCLUDED |
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STEROID CYTOCHROME P450 21-HYDROXYLASE PSEUDOGENE, INCLUDED; CYP21P,INCLUDED |
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STEROID CYTOCHROME P450 21-HYDROXYLASE, INCLUDED; P450C21, INCLUDED |
| Split Ratio |
1:3 |
| 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 |
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