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Cellosaurus GM02439 GM1-iPSC clone 2 (CVCL_VE85)

[Text version]
Cell line name GM02439 GM1-iPSC clone 2
Synonyms GM1-iPSC-clone 2
Accession CVCL_VE85
Resource Identification Initiative To cite this cell line use: GM02439 GM1-iPSC clone 2 (RRID:CVCL_VE85)
Comments Population: Turkish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4298; GLB1; Simple; p.Arg201Cys (c.601C>T); ClinVar=VCV000000925; Zygosity=Unspecified (PubMed=25925601).
Disease GM1 gangliosidosis (NCIt: C84739)
GM1 gangliosidosis (ORDO: Orphanet_354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W149 (GM02439)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=25925601

Markers:
AmelogeninX,Y
CSF1PO11
D2S133819,22
D3S135813,16
D5S81812,13
D7S8208,9
D8S117913,15
D13S3178,10
D16S53912,13
D18S5112,19
D19S43313,14.2
D21S1130.2,32.2
FGA19,21
TH016,7
TPOX8
vWA17,18

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Publications

PubMed=25925601; DOI=10.1002/path.4551
Son M.-Y., Kwak J.E., Seol B., Lee D.Y., Jeon H., Cho Y.S.
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.
J. Pathol. 237:98-110(2015)

Cross-references
Cell line databases/resources SKIP; SKIP001351
Encyclopedic resources Wikidata; Q54837492
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number9