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GM27987 Fibroblast

Description:

RETINITIS PIGMENTOSA; RP
PRE-MRNA-PROCESSING FACTOR 31; PRPF31
MER TYROSINE KINASE PROTOONCOGENE; MERTK

Affected:

Yes

Sex:

Male

Age:

21 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Ashkenazi Jewish
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" tab.

Characterizations

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PDL at Freeze 7.41
Passage Frozen 3
 
Gene PRPF31
Chromosomal Location 19q13.42
Allelic Variant 1 p.Gln389*; RETINITIS PIGMENTOSA
Identified Mutation c.1165C>T (p.Gln389*)
 
Gene MERTK
Chromosomal Location 2q13
Allelic Variant 2 p.Ala258Glu; RETINITIS PIGMENTOSA
Identified Mutation c.773C>A (p.Ala258Glu)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 21 YR
Sex Male
Age of Onset(If not a control) 10 YR
Age at Diagnosis(If not a control) 18 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  WHOLE GENOME AND NEXT GENERATION SEQUENCING DETECTED A HETEROZYGOUS AUTOSOMAL DOMINANT LIKELY PATHOGENIC VARIANT IN THE PRPF31 GENE (NM_015629.3): C.1165C>T (P.GLN389*, NP_056444.3); A LIKELY PATHOGENIC VARIANT IN MERTK (NM_006343.2) WAS ALSO DETECTED: C.773C>A (P.ALA258GLU, NP_CC6334.2), RS352762; REFERENCE GENOME GRCH38
Zygosity:  Heterozygous
Notes: A VARIANT IN PRPF31 HAS BEEN IDENTIFIED IN AN INDIVIDUAL WITH RETINITIS PIGMENTOSA (PMID: 30337596); INDIVIDUALS WITH PATHOGENIC VARIANTS IN RIMS1 HAVE AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY 7
Other variants:  OTHER HETEROZYGOUS VARIANTS INCLUDE AN AUTOSOMAL DOMINANT VARIANT OF UNCERTAIN SIGNIFICANCE (VOUS) IN RIMS1 (NM_014989.5): C.1088G>T (P.ARG363LEU, NP_055804.2), RS371189625; A LIKELY PATHOGENIC VARIANT IN ALMS (NM_015129.4): C.6299C>G (P.SER2100TRP, NP_056935.4); A VARIANT OF UNKNOWN SIGNIFICANCE IN ALMS (NM_015120.4): C.10382-52A>G; A LIKELY BENIGN VARIANT IN RP1 (NM_006269.2): C.4250T>C (P.LEU1417PRO, NP_006260), RS139294220; A LIKELY PATHOGENIC FRAMESHIFT VARIANT IN TMEM67 (NM_153704.6): C.579_580DELAG (P.GLY195ILEFSTER13); A VARIANT IN WFS1 (NM_001545853.1): C.1071G>A (P.MET357ILE, NP_001139325.1)
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  18 YEARS
Age at Diagnosis:  10 YEARS; DIAGNOSED BY AN EYE RETINA SPECIALIST
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Optical and Audiological Symptoms
Defective vision
Additional Information:  ROD-CONE DYSTROPHY, NIGHT BLINDNESS
Musculoskeletal Symptoms
Developmental Milestones
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Optical and Audiological Testing:  UNDERWENT HEIDELBERG SD-OCT INCLUDING BLUE FUNDUS AUTOFLUORESCENCE (BL-FAF); HAD PRESERVED CENTRAL MACULA WITH A HYPERFLUORESCENT RING IN BOTH EYES; IN THE OCT SCAN, THE ELLIPSOID ZONE AREA WAS 6.46 MM^2 IN THE RE AND 7.61 MM^2 IN THE LE; VISUAL FIELD (HUMPHREY SITA STND 24-2) MD IN RE WAS -8.39 AND IN LE WAS -8.35; BCVA: RE 6/6, LE 6/6; ERG NEGATIVE RESPONSE WITH MAXIMUM SCOTOPIC RESPONSES: RE - A WAVE 26.5 MICROVOLT, B-WAVE 13 MICROVOLT, LE - A WAVE 18.2 MICROVOLT, B-WAVE 18 MICROVOLT; PHOTOPIC ERG SHOWED SIMILAR RESPONSE
Treatments and Assistive Devices
Medications
Family History
Remarks See "Phenotypic Data" tab.

External Links

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Gene Ontology GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0004872 receptor activity
GO:0005524 ATP binding
GO:0005625 soluble fraction
GO:0005887 integral to plasma membrane
GO:0006468 protein amino acid phosphorylation
GO:0007166 cell surface receptor linked signal transduction
GO:0007267 cell-cell signaling
GO:0007601 visual perception
GO:0008151 cell growth and/or maintenance
GO:0016740 transferase activity
NCBI Gene Gene ID:10461
Gene ID:26121
NCBI GTR 268000 RETINITIS PIGMENTOSA; RP
604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK
606419 PRE-mRNA-PROCESSING FACTOR 31; PRPF31
OMIM 268000 RETINITIS PIGMENTOSA; RP
604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK
606419 PRE-mRNA-PROCESSING FACTOR 31; PRPF31
Omim Description RETINITIS PIGMENTOSA; RP

Culture Protocols

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Cumulative PDL at Freeze 7.41
Passage Frozen 3
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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