ID00083

ID00083 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

No Data

Age:

9 YR (At Sampling)

Overview

Repository

NIAID - USIDnet

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

T-Lymphocyte

Tissue Type

Blood

Transformant

Herpesvirus saimiri

Sample Source

LCL from B-Lymphocyte

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; T-cell line immortalized using HVS; donor subject is homozygous for an A>G transition at nucleotide 70 of the RMRP gene

Characterizations

Gene

RMRP

Chromosomal Location

9p21-p12

Allelic Variant 1

157660.0001; CARTILAGE-HAIR HYPOPLASIA

Identified Mutation

70A>G

Phenotypic Data

Remarks

Clinically affected; T-cell line immortalized using HVS; donor subject is homozygous for an A>G transition at nucleotide 70 of the RMRP gene

External Links

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

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Check Folder

Serum

5% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial:

$295.00USD

Academic &
Non-profit:

$205.00USD