ID   GM09546
AC   CVCL_F209
DR   CLO; CLO_0011434
DR   Coriell; GM09546
DR   Wikidata; Q54843837
RX   CelloPub=CLPUB00447;
RX   PubMed=32446239;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (Coriell=GM09546).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32446239
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D10S1248: 14,16
ST   D12S391: 15,21
ST   D13S317: 11,12
ST   D16S539: 11
ST   D18S51: 11,13
ST   D19S433: 14,15
ST   D1S1656: 11,12
ST   D21S11: 29,31.2
ST   D22S1045: 15,16
ST   D2S1338: 17
ST   D2S441: 14,15
ST   D3S1358: 16
ST   D5S818: 11,12
ST   D7S820: 7,8
ST   D8S1179: 13,14
ST   DYS391: 10
ST   FGA: 21,23
ST   SE33: 18,28.2
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 19
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7493 ! GM09545
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=32446239; DOI=10.1016/j.scr.2020.101839;
RA   Kim K.-P., Yoon J., Shin B., Ropke A., Han D.W., Scholer H.R.;
RT   "Generation of a human iPSC line (MPIi006-A) from a patient with
RT   Pelizaeus-Merzbacher disease.";
RL   Stem Cell Res. 46:101839-101839(2020).
//