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Cellosaurus OI-Pt2 iPSC (CVCL_D4ZD)

[Text version]
Cell line name OI-Pt2 iPSC
Accession CVCL_D4ZD
Resource Identification Initiative To cite this cell line use: OI-Pt2 iPSC (RRID:CVCL_D4ZD)
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)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38379122

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165616,18
D2S133820,23
D3S135815,16
D5S8187,12
D6S104314,19
D7S82010,12
D8S117910,15
D12S39118,22
D13S3178,11
D16S53910,12
D18S5113,15
D19S43313,15.2
D21S1129,30
FGA22,25
Penta D10,12
Penta E10,11
TH019
TPOX8,11
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)

Cross-references
Encyclopedic resources Wikidata; Q127383000
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3