ID   UBCi002-A
AC   CVCL_C9IB
DR   BioSamples; SAMEA112937624
DR   hPSCreg; UBCi002-A
DR   Wikidata; Q123033673
RX   PubMed=37531724;
CC   From: University of British Columbia; Vancouver; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8514; CLDN11; Simple; p.Ter208Glnext*39 (c.622T>C); ClinVar=VCV001106668; Zygosity=Heterozygous (PubMed=37531724).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C201587; Hypomyelinating leukodystrophy-22
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37531724; DOI=10.1016/j.scr.2023.103174;
RA   Ozgoren O.K., Sequiera G.L., Ferrari Bardile C., Gjervan S.C.,
RA   Salman A., Lehman A., Turvey S.E., Ross C.J.D., Stockler S.,
RA   Pouladi M.A.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   patient with hypomyelinating leukodystrophy 22 (HLD22).";
RL   Stem Cell Res. 71:103174-103174(2023).
//