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Cellosaurus IBMS-iPSC-033-02 (CVCL_QY33)

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Cell line name IBMS-iPSC-033-02
Synonyms IBMSi009-A
Accession CVCL_QY33
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-033-02 (RRID:CVCL_QY33)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Ser182Gly (c.544A>G); ClinVar=VCV000430337; Zygosity=Unspecified (PubMed=29414417).
  • Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Leu223Glufs*76 (c.667_679delCTGGAGCGGGACG); Zygosity=Unspecified (PubMed=29414417).
Disease Neuraminidase deficiency (NCIt: C125596)
Sialidosis type 1 (ORDO: Orphanet_812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29414417

Markers:
AmelogeninX
CSF1PO10,12
D2S133820,25
D3S135816,17
D5S8189
D7S82011,12
D8S117910
D13S31710,11
D16S53911,13
D18S5116,21
D19S43313,16.2
D21S1129,31.2
FGA22
TH016,9
TPOX9
vWA14,17

Run an STR similarity search on this cell line
Publications

PubMed=29414417; DOI=10.1016/j.scr.2018.01.024
Shih-Ping Liu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Huai-En Lu, Chon-Haw Tsai, Woei-Cherng Shyu, Patrick Ching-Ho Hsieh;
Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.
Stem Cell Res. 28:39-43(2018)

Cross-references
Cell line collections (Providers) BCRC; SC81060
BCRC; SC81061
Cell line databases/resources hPSCreg; IBMSi009-A
SKIP; SKIP003162
SKIP; SKIP005656
SKIP; SKIP005657
Encyclopedic resources Wikidata; Q54897201
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10