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Cellosaurus UBi001-A-1 (CVCL_YM95)

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Cell line name UBi001-A-1
Synonyms HGSNAT1; HGSNAT-1
Accession CVCL_YM95
Resource Identification Initiative To cite this cell line use: UBi001-A-1 (RRID:CVCL_YM95)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Universidad Autonoma de Barcelona; Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:26527; HGSNAT; Simple_edited; p.Asn94Glyfs*15 (c.279_294del) (p.Asn66Glyfs*15, c.195_210del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
  • Mutation; HGNC; HGNC:26527; HGSNAT; Simple_edited; p.Tyr98Hisfs*17 (c.291_292insCA) (p.Tyr70Hisfs*17, c.207_208insCA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
Disease Mucopolysaccharidosis type IIIC (NCIt: C84899)
Sanfilippo syndrome type C (ORDO: Orphanet_79271)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YM94 (UBi001-A)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO10,13
D5S81812
D7S82010,13
D13S31712
D16S53911,13
D21S1129
TH018,9
TPOX9,11
vWA17

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+HGSNAT1+Solicitud+de+dep%C3%B3sito+v3.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/HGSNAT1%2520Anexo.pdf
Publications

PubMed=31731183; DOI=10.1016/j.scr.2019.101616
Noelia Beneto, Monica Cozar, Maria Garcia-Morant, Edgar Creus-Bachiller, Lluisa Vilageliu, Daniel Grinberg, Isaac Canals;
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.
Stem Cell Res. 41:101616-101616(2019)

Cross-references
Cell line databases/resources hPSCreg; UBi001-A-1
Biological sample resources BioSamples; SAMEA6286047
Encyclopedic resources Wikidata; Q98133808
Entry history
Entry creation12-Mar-2020
Last entry update10-Apr-2025
Version number10