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Cellosaurus INSAi003-A (CVCL_E9B5)

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Cell line name INSAi003-A
Accession CVCL_E9B5
Resource Identification Initiative To cite this cell line use: INSAi003-A (RRID:CVCL_E9B5)
Comments From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Homozygous (PubMed=40332602).
Disease I-cell disease (NCIt: C61270)
Mucolipidosis type II (ORDO: Orphanet_576)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=40332602

Markers:
AmelogeninX
CSF1PO12
D2S133822,25
D3S135816,18
D5S8189,12
D7S82010,13
D8S117913,14
D13S31711
D16S5399,11
D18S5114,16
D19S43312,13
D21S1128,30
FGA19,24
TH016,8
TPOX8
vWA17

Run an STR similarity search on this cell line
Publications

PubMed=40332602; DOI=10.3390/ijms26083871
Maria Eduarda Moutinho, Mariana Goncalves, Ana Joana Duarte, Marisa Encarnacao, Maria Francisca Coutinho, Liliana Matos, Juliana Ines Santos, Diogo Ribeiro, Olga Amaral, Paulo Gaspar, Sandra Alves, Luciana Vaz Moreira;
Establishment of a human iPSC line from mucolipidosis type II that expresses the key markers of the disease.
Int. J. Mol. Sci. 26:3871.1-3871.21(2025)

Cross-references
Cell line databases/resources hPSCreg; INSAi003-A
Biological sample resources BioSamples; SAMEA115474367
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1