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Cellosaurus MPIi007-A (CVCL_A4WI)

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Cell line name MPIi007-A
Accession CVCL_A4WI
Resource Identification Initiative To cite this cell line use: MPIi007-A (RRID:CVCL_A4WI)
Comments From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:713; ARSA; Simple; p.Thr393Ser (c.1178C>G) (p.Thr391Ser, c.1172C>G); ClinVar=VCV000021184; Zygosity=Heterozygous (PubMed=32950023).
Disease Metachromatic leukodystrophy (NCIt: C61251)
Metachromatic leukodystrophy (ORDO: Orphanet_512)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_6B33 (GM00197)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32950023

Markers:
AmelogeninX,Y
CSF1PO11,13
D2S133819,20
D3S135817,18
D5S81811,12
D7S82010,11
D8S117913,15
D13S31712,13
D16S5399,13
D18S5112
D19S43315
D21S1130.2,31.2
FGA20,23
TH016,8
TPOX8
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=32950023; DOI=10.1016/j.scr.2020.101993
Kee-Pyo Kim, Juyong Yoon, Johnny Kim, Albrecht Ropke, Borami Shin, Dong Wook Han, Boris Greber, Hans Robert Scholer;
Generation of a human iPSC line (MPIi007-A) from a patient with metachromatic leukodystrophy.
Stem Cell Res. 48:101993-101993(2020)

Cross-references
Cell line databases/resources hPSCreg; MPIi007-A
Encyclopedic resources Wikidata; Q107116394
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6