GM28577
iPSC from Fibroblast
Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
FOXG1
PIGI Consented Sample |
| Protocols |
Protocol PDF |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Stem cell
|
|
Cell Subtype
|
Induced pluripotent stem cell
|
|
Transformant
|
Reprogrammed (Sendai)
|
|
Sample Source
|
iPSC from Fibroblast
|
|
Race
|
More than one race
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Indian (50%) / German (25%) / British (25%)
|
|
Country of Origin
|
ITALY
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.670G>A, p.Gly224Ser |
| Remarks |
Externally reprogrammed from parental line GM27300 (fibroblast); clinically affected; onset of symptoms at 6 months of age; diagnosed by a geneticist at 9 months of age; gross motor delay; infantile /epileptic spasms; management includes: physical therapy, occupational therapy, and speech language therapy; heterozygous c.670G>A (p.Gly224Ser) variant found in FOXG1 gene; medications include adrenocorticotropic hormone (ACTH); LCL is GM27325; mother is GM27326. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| Passage Frozen |
15 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
|
|