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ID00084 LCL from B-Lymphocyte

Description:

CARTILAGE-HAIR HYPOPLASIA; CHH
MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIAID - USIDnet
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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)

Characterizations

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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

Phenotypic Data

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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)

Publications

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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

External Links

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Gene Cards RMRP
NCBI Gene Gene ID:6023
NCBI GTR 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
250250 CARTILAGE-HAIR HYPOPLASIA; CHH
OMIM 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
250250 CARTILAGE-HAIR HYPOPLASIA; CHH
Omim Description CARTILAGE-HAIR HYPOPLASIA; CHH
  METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE

Culture Protocols

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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
Commercial:
$295.00USD
Academic &
Non-profit:
$205.00USD
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