ID   OI-Pt2 iPSC
AC   CVCL_D4ZD
DR   Wikidata; Q127383000
RX   PubMed=38379122;
CC   From: Xiangya Hospital of Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Gly536Valfs*5 (c.1607delG); Zygosity=Heterozygous (PubMed=38379122).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=38379122
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 18,22
ST   D13S317: 8,11
ST   D16S539: 10,12
ST   D18S51: 13,15
ST   D19S433: 13,15.2
ST   D1S1656: 16,18
ST   D21S11: 29,30
ST   D2S1338: 20,23
ST   D3S1358: 15,16
ST   D5S818: 7,12
ST   D6S1043: 14,19
ST   D7S820: 10,12
ST   D8S1179: 10,15
ST   FGA: 22,25
ST   Penta D: 10,12
ST   Penta E: 10,11
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C99003; Osteogenesis imperfecta type I
DI   ORDO; Orphanet_216796; Osteogenesis imperfecta type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=38379122; DOI=10.1007/s13577-024-01028-3;
RA   Li S.-J., Mei L.-Y., He C.-F., Cai X.-Z., Wu H., Wu X.-W., Liu Y.-L.,
RA   Feng Y., Song J.;
RT   "Identification of a family with van der Hoeve's syndrome harboring a
RT   novel COL1A1 mutation and generation of patient-derived iPSC lines
RT   and CRISPR/Cas9-corrected isogenic iPSCs.";
RL   Hum. Cell 37:817-831(2024).
//