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Cellosaurus UOHi003-A (CVCL_C1XU)

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Cell line name UOHi003-A
Synonyms UOH001iShank3; UOH001iSHANK3; UOHi001-A
Accession CVCL_C1XU
Resource Identification Initiative To cite this cell line use: UOHi003-A (RRID:CVCL_C1XU)
Comments From: University of Haifa; Haifa; Israel.
Population: Caucasian.
Miscellaneous: We have kept in this entry the reference of the preprint (DOI=10.1101/2022.04.13.486968) because it contains the STR profile which is no longer available in the published paper (PubMed=36044808).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14294; SHANK3; Simple; p.Ala1227Glyfs*69 (c.3679dupG) (c.3679insG); ClinVar=VCV000208759; Zygosity=Heterozygous (PubMed=36044808).
Disease Phelan-McDermid syndrome (NCIt: C157124)
Monosomy 22q13.3 (ORDO: Orphanet_48652)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
STR profile Source(s): DOI=10.1101/2022.04.13.486968

Markers:
AmelogeninX
CSF1PO10,12
D2S133817,20
D3S135815,18
D5S8189,11
D7S82010
D8S117915
D13S3179,11
D16S53911
D18S5112
D19S43313
D21S1129
FGA20,26
TH017,10
TPOX9,11
vWA16,18

Run an STR similarity search on this cell line
Publications

DOI=10.1101/2022.04.13.486968
Ritu Nayak, Idan Rosh, Tatiana Rabinski, Menachem Mendel Percia, Shani Stern;
Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.
bioRxiv 2022:04.13.486968-04.13.486968(2022)

PubMed=36044808; DOI=10.1016/j.scr.2022.102899
Ritu Nayak, Idan Rosh, Tatiana Rabinski, Daniel Falik, Menachem Mendel Percia, Shani Stern;
Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.
Stem Cell Res. 64:102899-102899(2022)

Cross-references
Cell line databases/resources hPSCreg; UOHi003-A
Biological sample resources BioSamples; SAMEA111396693
Encyclopedic resources Wikidata; Q114313208
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number7