GM27162
iPSC from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| 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
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX[24].arr(1-22,X)x2
|
|
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 |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 1 |
605270.0001; SANFILIPPO SYNDROME A |
| Identified Mutation |
ARG245HIS; A G-to-A transition at nucleotide position 746 of the sulfamidase gene is responsible for the missense mutation which changes arginine-245 to a histidine (R245H). |
| Remarks |
Mental retardation; no language; spastic gait, coarse facies; typical roentgen bone findings; deficient heparan-N-sulfatase; donor subject is a compound heterozygote: one allele carries a G>A transition at nucleotide 746 (746G>A) in the SGSH gene [Arg 245His (R245H)]; no changes detected in other allele; same subject as GM06110 (fibroblast). 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 |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
|
|