GM24593
LCL from B-Lymphocyte
Description:
TURNER SYNDROME
|
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
|
Other
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
BANGLADESHI
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
45,X[3]/46,X,i(X)(qter->q10::q10->qter)[17].arr[hg19] Xp22.33p11.1(168464-58561918)x1,Xq11.1q28(61728816-155233846)x3, 1q23.2q24.2(159764624-167535488)x2 hmz, 2p21p14(46988072-68171603)x2 hmz,2q14.3q22.1(129574781-141537758)x2 hmz, 4q24q28.1(106808106-127334608)x2 hmz, 7q21.13q31.1(90848216-107525846)x2 hmz, 10q23.1q24.2(82877915-99676403)x2 hmz,11q24.2q25(126369167-134835614)x2 hmz,12q13.2q21.2(54910905-76267617)x2 hmz,13q33.1q34(104384162-114915125)x2 hmz, 19p13.12p12(16255238-24209547)x2 hmz,19q13.12q13.32(36045402-47794681)x2 hmz,20q13.2q13.31(49886306-55026741)x2 hmz
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; overweight; short stature; mild dysmorphic features: narrow, high arched palate, dental crowding, low hairline; ptosis; widely spaced nipples; flat feet; short 4th metacarpal; short metatarsal; minimal nail dysplasia; mild bilateral sensorineural hearing loss; normal pelvic ultrasound at 13 years of age; normal echocardiogram at 14 years of age; low FSH and LY with normal thyroid function; primary amenorrhea; some learning issues; treatments include: Amethia (sex hormone replacement); cytogenetic analysis shows abnormal mosaic karyotype consistent with Turner syndrome (45,X[9]/46,X,i(X)(q10)[22]). |
| 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 |
- |
|
|