GM29681
iPSC from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[19]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
25 |
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| 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. |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
E153K; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
GLU153LYS |
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| Gene |
NAGLU |
| Chromosomal Location |
17q21 |
| Allelic Variant 2 |
E153K; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
GLU153LYS |
| Remarks |
Cell line ID: TRNDi006-A (PMID: 30933722). Reprogrammed from parental fibroblast GM01426. Deficient N-acetyl-alpha-D glucosaminidase; similarly affected brother; donor subject is homozygous for a G>A transversion at nucleotide 457 of the NAGLU gene (457G>A) resulting in the substitution of lysine for glutamic acid at codon 153 [Glu153Lys (E153K)]. May see <10% differentiation at recovery and for the first 1-2 passages. Differentiation will decrease by the second to third passage with proper handling. 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. |
| Gene Cards |
NAGLU |
| Gene Ontology |
GO:0004561 alpha-N-acetylglucosaminidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0007399 neurogenesis |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
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GO:0030203 glycosaminoglycan metabolism |
| NCBI Gene |
Gene ID:4669 |
| NCBI GTR |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
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609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| OMIM |
252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B |
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609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU |
| Omim Description |
MPS IIIB |
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MUCOPOLYSACCHARIDOSIS TYPE IIIB |
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N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY |
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N-ACETYLGLUCOSAMINIDASE, ALPHA-, INCLUDED |
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NAG POLYMORPHISM, INCLUDED |
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NAGLU DEFICIENCYN-ACETYL-ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED |
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NAGLU, INCLUDED |
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SANFILIPPO SYNDROME B |
| Passage Frozen |
25 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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