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Cellosaurus OI-Pt1 iPSC (CVCL_D4ZC)

[Text version]
Cell line name OI-Pt1 iPSC
Accession CVCL_D4ZC
Resource Identification Initiative To cite this cell line use: OI-Pt1 iPSC (RRID:CVCL_D4ZC)
Comments From: Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Gly536Valfs*5 (c.1607delG); Zygosity=Heterozygous (PubMed=38379122).
Disease Osteogenesis imperfecta type I (NCIt: C99003)
Osteogenesis imperfecta type 1 (ORDO: Orphanet_216796)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D4ZE (OI-Pt1 iPSC corrected)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38379122

Markers:
AmelogeninX
CSF1PO10,13
D1S165614,15
D2S133817,23
D3S135816,17
D5S81810,11
D6S104317,18
D7S82010,11
D8S117914,16
D12S39122,23
D13S3178,11
D16S5399,13
D18S5113,16
D19S43314,15.2
D21S1130,33.2
FGA22,24
Penta D11,13
Penta E11,19
TH017
TPOX11
vWA14,17

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Publications

PubMed=38379122; DOI=10.1007/s13577-024-01028-3
Li S.-J., Mei L.-Y., He C.-F., Cai X.-Z., Wu H., Wu X.-W., Liu Y.-L., Feng Y., Song J.
Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.
Hum. Cell 37:817-831(2024)

PubMed=38878231; DOI=10.1007/s13577-024-01093-8
Dalgleish R.
Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.
Hum. Cell 37:1610-1611(2024)

Cross-references
Encyclopedic resources Wikidata; Q127382997
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3