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GM28072
Fibroblast
from
Skin, Arm
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
Affected:
Yes
Sex:
Female
Age:
9
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Arm
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Arm
Race
White
Subject Type
parent/child concordant pair
Ethnicity
Not Hispanic/Latino
Ethnicity
Polish
Country of Origin
POLAND
Family Member
1
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; See "Phenotypic Data" Tab; unaffected carrier mother is GM28073 (fibro).
Characterizations
PDL at Freeze
8.54
Passage Frozen
3
Gene
SURF1
Chromosomal Location
9q34.2
Allelic Variant 1
185620.0014
; LEIGH SYNDROME
Identified Mutation
c.845_846delCT (p.Ser282Cysfs*9)
; In 9 of 40 unrelated patients with mitochondrial complex IV deficiency (MC4DN1; 220100) manifest as Leigh syndrome, Pequignot et al. (2001) identified a 2-bp deletion in the SURF1 gene (845delCT).
Gene
SURF1
Chromosomal Location
9q34.2
Allelic Variant 2
185620.0014
; LEIGH SYNDROME
Identified Mutation
c.845_846delCT (p.Ser282Cysfs*9)
; In 9 of 40 unrelated patients with mitochondrial complex IV deficiency (MC4DN1; 220100) manifest as Leigh syndrome, Pequignot et al. (2001) identified a 2-bp deletion in the SURF1 gene (845delCT).
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
9 YR
Sex
Female
Age of Onset(If not a control)
6 MO
Age at Diagnosis(If not a control)
3 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
POLAND
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
SURF1. C.845_846DELCT (P.SER282FS), FRAMESHIFT
Zygosity:
Homozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
6 MONTHS
Age at Diagnosis:
3.5 YEARS
In Utero History Information
Birth History Information
Failure to thrive
Dysmorphic Features
Additional Information:
DEFORMITY OF THE CHEST
Neurological Symptoms
Corpus callosum abnormalities
Hypotonia
Unstable gait
White matter issues
Additional Information:
GENERALIZED MUSCLE FLACCIDITY
Optical and Audiological Symptoms
Defective vision
Optic disk palor
Optic nerve damage
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Sitting Without Assistance:
Achieved and maintained
Additional Information:
INHIBITION OF WEIGHT AND HEIGHT GAIN AT 6 MONTHS, DIFFICULTIES IN WALKING ON HER OWN, FOLLOWED BY DIFFICULT AND SLOW SPEECH SITS ALONE, STANDS ALONE, CRAWL CAN TALK AND READ
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Additional Information:
ABNORMAL BREATH PATTERN WITH PERIODS OF HYPERVENTILATION
Cognitive and Behavioral Symptoms
Additional Information
Uncategorized Symptoms:
WENT TO PRIMARY SCHOOL TO SECOND GRADE
Testing Performed
Neurological Testing:
MRI: HYPOPLASIA OF CORPUS CALLOSUM AND PATHOLOGICAL SIGNALS IN THE CORTICOSPINAL AND CORTICOCEREBELLAR TRACTS.
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
Orthotics
Surgeries
USE GORSET GASTROSTOMY
Medications
VITAMINS
Family History
Remarks
Clinically affected; See "Phenotypic Data" Tab; unaffected carrier mother is GM28073 (fibro).
External Links
Gene Cards
MTATP6
SURF1
Gene Ontology
GO:0004129 cytochrome-c oxidase activity
GO:0005739 mitochondrion
GO:0005746 mitochondrial electron transport chain
GO:0006118 electron transport
GO:0008535 cytochrome c oxidase biogenesis
GO:0009060 aerobic respiration
GO:0016021 integral to membrane
GO:0019866 inner membrane
NCBI Gene
Gene ID:6834
NCBI GTR
185620 SURFEIT 1; SURF1
256000 LEIGH SYNDROME; LS
OMIM
185620 SURFEIT 1; SURF1
256000 LEIGH SYNDROME; LS
Omim Description
LEIGH SYNDROME
NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNE
Culture Protocols
Cumulative PDL at Freeze
8.54
Passage Frozen
3
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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