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Cellosaurus MPIi006-A (CVCL_ZJ16)

[Text version]
Cell line name MPIi006-A
Accession CVCL_ZJ16
Resource Identification Initiative To cite this cell line use: MPIi006-A (RRID:CVCL_ZJ16)
Comments From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
Population: Caucasian; Italian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (PubMed=32446239).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F209 (GM09546)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32446239

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165611,12
D2S44114,15
D2S133817
D3S135816
D5S81811,12
D7S8207,8
D8S117913,14
D10S124814,16
D12S39115,21
D13S31711,12
D16S53911
D18S5111,13
D19S43314,15
D21S1129,31.2
D22S104515,16
DYS39110
FGA21,23
SE3318,28.2
TH017,9.3
TPOX8,11
vWA19

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Publications

PubMed=32446239; DOI=10.1016/j.scr.2020.101839
Kim K.-P., Yoon J., Shin B., Ropke A., Han D.W., Scholer H.R.
Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease.
Stem Cell Res. 46:101839-101839(2020)

Cross-references
Cell line databases/resources hPSCreg; MPIi006-A
Encyclopedic resources Wikidata; Q98127282
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6