GM29682
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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Transformant
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Reprogrammed (Sendai)
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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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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY[20]
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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 |
27 |
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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 |
609701.0002; MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| Identified Mutation |
ARG626TER; In a cell line from a patient with Sanfilippo syndrome type B, GM00156, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] found homozygosity for an arg626-to-ter (R626X) premature termination mutation. |
| Remarks |
Cell line ID: TRNDi042-A (PMID: 39579553). Reprogrammed from parental fibroblast GM00156. No detectable N-acetyl-alpha-D glucosaminidase activity; 46,XY; homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg [Arg626ter (R626X)]. 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 |
27 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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