GM24366
LCL from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
SCOTTISH/IRISH
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,dup(5)(q13.3q21).arr[hg19] 5q13.3q21.1(76776368-99524109)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 2 weeks; pregnancy history includes: oligohydramnios and breech presentation/delivery; hospitalized with respiratory syncytial virus pneumonia and respiratory failure at 6 weeks of age, episode of metabolic alkalosis with hypophosphatemia during this hospitalization that spontaneously resolved; hypotonia (improved with PT/OT); microcephaly (32 cm, < 3rd percentile at birth, <10th percentile at 3 months, 3-4 SD below the mean at age 17); short stature; small for age (<5th percentile for weight and height at 3 months, 3-4 SD below the mean at age 17); high palate; small mouth; crowded teeth; thin lips; prominent nasal bridge; mild intermittent esotrophia; prominent eyes with bilateral epicanthal folds; palpebral fissures 2 cm bilaterally; borderline low set ears; superior helixes are squared and somewhat overturned; very slight pectus excavatum; hypoplastic toenails; 36 degree scoliosis; congenital hip subluxation; mild hip dysplasia; fine motor delay and gross motor delay (improved with PT/OT); severe mental retardation; does not communicate well orally; uses only a few words that are not understood by strangers; large receptive vocabulary, communicates by showing; not potty trained; sleep disturbance; medications include Reglan and Proventil; treatments include physical and occupational therapies; unaffected parents are GM24365(Lymph) and GM24367(Lymph). |
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 |
- |
|
|