Description:
CARTILAGE-HAIR HYPOPLASIA; CHH
MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
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Repository
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NIAID - USIDnet
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| Subcollection |
Heritable Diseases |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from LCL
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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|
| Gene |
RMRP |
| Chromosomal Location |
9p21-p12 |
| Allelic Variant 1 |
; CARTILAGE-HAIR HYPOPLASIA |
| Identified Mutation |
-25_-5 DUP |
| |
| Gene |
RMRP |
| Chromosomal Location |
9p21-p12 |
| Allelic Variant 2 |
; CARTILAGE-HAIR HYPOPLASIA |
| Identified Mutation |
146G>A |
| Remarks |
Clinically affected; CD8 lymphopenia; donor subject is a compound heterozygote: one allele has a duplication in the RMRP gene (-25_-5 dup); the second allele has a G>A transition at nucleotide 146 (146G>A) |
| Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD, Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations The Journal of allergy and clinical immunology122:1178-84 2008 |
| PubMed ID: 18804272 |
| 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 |
- |
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