ID   MDCUi001-A
AC   CVCL_XI89
SY   Th-XOI#1
DR   BioSamples; SAMEA5843916
DR   hPSCreg; MDCUi001-A
DR   SKIP; SKIP005784
DR   Wikidata; Q95987833
RX   PubMed=31326747;
CC   From: Center of Excellence for Medical Genomics, Chulalongkorn University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; HGNC:15455; MBTPS2; Simple; p.Asn459Ser (c.1376A>G); ClinVar=VCV000558767; Zygosity=Hemizygous (PubMed=31326747).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C164153; Osteogenesis imperfecta type XIX
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XI90 ! MDCUi001-B
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31326747; DOI=10.1016/j.scr.2019.101493;
RA   Tongkobpetch, Siraprapa
RA   Rungsiwiwut, Ruttachuk
RA   Pruksananonda, Kamthorn
RA   Suphapeetiporn, Kanya
RA   Shotelersuk, Vorasuk
RT   "Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from
RT   dermal fibroblasts of a Thai patient with X-linked osteogenesis
RT   imperfecta using integration-free Sendai virus.";
RL   Stem Cell Res. 39:101493-101493(2019).
//