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GM27128
LCL
from
B-Lymphocyte
Description:
GONADAL DYSGENESIS
Affected:
Yes
Sex:
Female
Age:
65
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Culture Protocols
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Chromosome Abnormalities
PIGI Consented Sample
Cell Type
B-Lymphocyte
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Not Hispanic/Latino
Ethnicity
Northwestern European - Scottish, Irish, French
Country of Origin
USA
Family History
N
Relation to Proband
proband
Confirmation
Clinical summary/Case history
ISCN
46,XY,22qs[22].arr(1-22)x2,(X,Y)x1
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected with mixed Gonadal Dysgenesis; diagnosed at 47 years old by an endocrinologist; symptom onset at birth; craniofacial abnormalities: micrognathia, thin upper lip, large skull; musculoskeletal abnormalities: cubitus valgus; genitourinary
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Demographic Data
Relation to Proband
proband
Age at Sampling
65 YR
Sex
Female
Age at Diagnosis(If not a control)
47 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
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
AT BIRTH
Age at Diagnosis:
47
In Utero History Information
Birth History Information
Dysmorphic Features
Additional Information:
THIN UPPER LIP LARGE SKULL EXCESS SKIN UNDER EYES
Neurological Symptoms
Optical and Audiological Symptoms
Defective vision
Additional Information:
STRABISMIC AMBLYOPIA
Musculoskeletal Symptoms
Additional Information:
CUBITUS VALGUS HYPERMOBILE JOINTS FUSED CERVICAL VERTEBRAE
Developmental Milestones
Additional Information:
GROWTH DELAY
Gastrointestinal Symptoms
Genitourinary Symptoms
Kidney abnormalities
Additional Information:
GONADAL DYSGENESIS PERSISTENT FETAL LOBULATION
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information:
SPATIAL DEFICITS IQ 161
Additional Information
Uncategorized Symptoms:
HYPOTHYROIDISM MILD ADRENAL INSUFFICIENCY
Testing Performed
Treatments and Assistive Devices
Medications
Family History
Remarks
Clinically affected with mixed Gonadal Dysgenesis; diagnosed at 47 years old by an endocrinologist; symptom onset at birth; craniofacial abnormalities: micrognathia, thin upper lip, large skull; musculoskeletal abnormalities: cubitus valgus; genitourinary
No data is available
No data is available
No data is available
Split Ratio
1:4
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/For-profit:
$259.00
USD
Academic/Non-profit/Government:
$143.00
USD
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